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
SOGA2	23255	broad.mit.edu	37	18	8785985	8785985	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr18:8785985G>T	ENST00000359865.3	+	7	1925	c.1783G>T	c.(1783-1785)Gag>Tag	p.E595*	SOGA2_ENST00000306329.11_Nonsense_Mutation_p.E955*|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000517570.1_Nonsense_Mutation_p.E595*|SOGA2_ENST00000400050.3_Nonsense_Mutation_p.E595*	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	946								p.E595*(1)									CCGAGGGGACGAGCGGGAGAG	0.642000													8	17					0.000274275	0.000319872	0.004482	1	0
BSN	8927	broad.mit.edu	37	3	49698291	49698291	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:49698291C>G	ENST00000296452.4	+	6	9127	c.9013C>G	c.(9013-9015)Ctt>Gtt	p.L3005V		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3005					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	p.L3005V(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTTGCGTGGTCTTGGCGAGCA	0.592000													6	20					0	0	0.001984	0	0
DNAH2	146754	broad.mit.edu	37	17	7736529	7736529	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:7736529G>A	ENST00000572933.1	+	85	14579	c.13119G>A	c.(13117-13119)aaG>aaA	p.K4373K	DNAH2_ENST00000389173.2_Silent_p.K4373K			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4373					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.K4373K(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCCGCAAGAAGAGCGCCAAGG	0.632000													4	26					0	0	0.009096	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138394486	138394486	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:138394486C>A	ENST00000310018.2	-	21	2594	c.2312G>T	c.(2311-2313)gGc>gTc	p.G771V	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.G771V|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.G771V	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	771					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	p.G771V(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TCCTCCCCAGCCTCGCGTCTG	0.493000													24	94					8.58068e-18	1.43375e-17	0.007291	1	0
PLIN2	123	broad.mit.edu	37	9	19116449	19116449	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr9:19116449G>A	ENST00000276914.2	-	8	1290	c.1111C>T	c.(1111-1113)Ctc>Ttc	p.L371F	PLIN2_ENST00000411567.1_Missense_Mutation_p.L290F	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	371					cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle		p.L371F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						CTAGAAGTGAGGAGGCTGTCA	0.498000													13	56					0	0	0.013537	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85449828	85449828	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:85449828G>T	ENST00000393217.2	+	8	1318	c.1257G>T	c.(1255-1257)aaG>aaT	p.K419N		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	419								p.K419N(2)		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)		CAAATGATAAGGGTGATATAG	0.318000													6	59					8.12818e-05	9.85462e-05	0.001984	1	0
SIX2	10736	broad.mit.edu	37	2	45233412	45233412	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:45233412G>A	ENST00000303077.6	-	2	1092	c.773C>T	c.(772-774)cCg>cTg	p.P258L		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	258						nucleus	sequence-specific DNA binding transcription factor activity	p.P258L(1)		endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GCCTGGCACCGGCACTGGCAC	0.706000													6	40					0	0	0.001168	0	0
FGD4	121512	broad.mit.edu	37	12	32751515	32751515	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:32751515G>C	ENST00000427716.2	+	5	1109	c.685G>C	c.(685-687)Gat>Cat	p.D229H	FGD4_ENST00000531134.1_Missense_Mutation_p.D314H|FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000534526.2_Missense_Mutation_p.D366H|FGD4_ENST00000525053.1_Missense_Mutation_p.D341H|FGD4_ENST00000546442.1_Missense_Mutation_p.D136H|FGD4_ENST00000381025.3_5'UTR	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	229	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.D229H(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TGACCTCTTAGATCAGGTAAG	0.313000													23	76					0	0	0.002780	0	0
CTSD	1509	broad.mit.edu	37	11	1774823	1774823	+	Missense_Mutation	SNP	C	C	A	rs121912790		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:1774823C>A	ENST00000236671.2	-	9	1281	c.1149G>T	c.(1147-1149)tgG>tgT	p.W383C	RP11-295K3.1_ENST00000427721.1_Intron	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	383			W -> C (in CLN10).		cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity	p.W383C(1)		endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CGCCCAGGATCCAGAGTGGCC	0.652000													11	59					0.000673444	0.000774587	0.008291	1	0
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													3	74					0	0	0.004672	0	0
FKBP9	11328	broad.mit.edu	37	7	33020067	33020067	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:33020067G>T	ENST00000242209.4	+	5	964	c.795G>T	c.(793-795)aaG>aaT	p.K265N	FKBP9_ENST00000489038.1_3'UTR|FKBP9_ENST00000538443.1_Missense_Mutation_p.K127N|FKBP9_ENST00000538336.1_Missense_Mutation_p.K318N|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000490776.2_Missense_Mutation_p.K33N	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	265					protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	p.K33N(1)|p.K265N(1)		central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			TTGAGAACAAGGTAGTACCTG	0.468000													22	211					2.32416e-17	3.86939e-17	0.014323	1	0
HLTF	6596	broad.mit.edu	37	3	148791111	148791111	+	Splice_Site	SNP	T	T	C	rs138362499		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:148791111T>C	ENST00000310053.5	-	5	723		c.e5-2		HLTF_ENST00000465259.1_Splice_Site|HLTF_ENST00000494055.1_Splice_Site|HLTF_ENST00000392912.2_Splice_Site	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor						chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	p.?(1)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			ATCCTAAAGCTATAATTTACA	0.368000													8	51					0	0	0.003080	0	0
TNRC6A	27327	broad.mit.edu	37	16	24801038	24801038	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:24801038A>T	ENST00000395799.3	+	6	1204	c.1075A>T	c.(1075-1077)Agc>Tgc	p.S359C	TNRC6A_ENST00000315183.7_Missense_Mutation_p.S359C	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	359	Ser-rich.|Sufficient for interaction with EIF2C1, EIF2C3 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	p.S359C(1)		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)		GTTAAATCCAAGCACTTTGAA	0.448000													7	72					0	0	0.003080	0	0
HTR1A	3350	broad.mit.edu	37	5	63256905	63256905	+	Silent	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:63256905G>C	ENST00000323865.3	-	1	875	c.642C>G	c.(640-642)ctC>ctG	p.L214L	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	214					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	p.L214L(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TGCGCCCATAGAGAACCAGCA	0.582000													17	138					0	0	0.004990	0	0
TUBA3D	113457	broad.mit.edu	37	2	132237812	132237812	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:132237812G>A	ENST00000321253.6	+	4	653	c.546G>A	c.(544-546)gtG>gtA	p.V182V	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	182					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.V182V(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CAGCCGTGGTGGAGCCCTACA	0.552000													16	196					0	0	0.007413	0	0
VNN2	8875	broad.mit.edu	37	6	133072641	133072641	+	Silent	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:133072641T>A	ENST00000326499.6	-	5	967	c.843A>T	c.(841-843)gcA>gcT	p.A281A	VNN2_ENST00000525270.1_Silent_p.A228A|VNN2_ENST00000525289.1_Intron	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN	vanin 2	281	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity	p.A281A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		GACCATTTGGTGCATAAATAC	0.418000													8	65					0	0	0.004482	0	0
PGK2	5232	broad.mit.edu	37	6	49753978	49753978	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:49753978G>A	ENST00000304801.3	-	1	1075	c.923C>T	c.(922-924)tCt>tTt	p.S308F		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	308					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	p.S308F(1)		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)					CCAGCCAGGAGATATGCCAGA	0.463000													12	190					0	0	0.001855	0	0
SOWAHB	345079	broad.mit.edu	37	4	77817765	77817765	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:77817765T>A	ENST00000334306.2	-	1	1237	c.1238A>T	c.(1237-1239)aAa>aTa	p.K413I		NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN	sosondowah ankyrin repeat domain family member B	413								p.K413I(1)									CGGGGAGTCTTTGGGCCCACT	0.577000													10	67					0	0	0.006214	0	0
CENPI	2491	broad.mit.edu	37	X	100356187	100356187	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:100356187C>T	ENST00000372927.1	+	2	405	c.128C>T	c.(127-129)tCa>tTa	p.S43L	CENPI_ENST00000372926.1_Missense_Mutation_p.S43L|CENPI_ENST00000218507.5_Missense_Mutation_p.S43L|CENPI_ENST00000423383.1_Missense_Mutation_p.S43L	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	43					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding	p.S43L(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						AAGAACATCTCAAAACATGGA	0.423000													15	119					0	0	0.004007	0	0
DEFB119	245932	broad.mit.edu	37	20	29976852	29976852	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr20:29976852C>T	ENST00000376315.2	-	2	242	c.243G>A	c.(241-243)atG>atA	p.M81I	DEFB119_ENST00000339144.3_Intron|DEFB119_ENST00000376321.3_Intron|DEFB119_ENST00000492344.1_Intron	NM_001271209.1|NM_153323.4	NP_001258138.1|NP_697018.1	Q8N690	DB119_HUMAN	defensin, beta 119	0					defense response to bacterium	extracellular region		p.M81I(1)		large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TATTTGTCTTCATTTTTGGAG	0.383000													15	67					0	0	0.002450	0	0
MYT1L	23040	broad.mit.edu	37	2	1926884	1926884	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:1926884G>A	ENST00000399161.2	-	10	1404	c.657C>T	c.(655-657)gcC>gcT	p.A219A	MYT1L_ENST00000428368.2_Silent_p.A219A	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	219					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A219A(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ACTCAGTCCTGGCCCGGTAGG	0.438000													8	53					0	0	0.006214	0	0
NRF1	4899	broad.mit.edu	37	7	129317534	129317534	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:129317534G>T	ENST00000393232.1	+	4	518	c.401G>T	c.(400-402)tGt>tTt	p.C134F	NRF1_ENST00000393231.3_Missense_Mutation_p.C134F|NRF1_ENST00000539636.1_5'UTR|NRF1_ENST00000223190.4_Missense_Mutation_p.C134F|NRF1_ENST00000353868.4_Missense_Mutation_p.C134F|NRF1_ENST00000311967.2_Missense_Mutation_p.C134F|NRF1_ENST00000393230.2_Missense_Mutation_p.C134F	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	134					generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	p.C134F(1)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						ATTGTCCTCTGTATCTCACCC	0.413000													49	148					1.38658e-30	2.39523e-30	0.014410	1	0
HRH4	59340	broad.mit.edu	37	18	22057268	22057268	+	Silent	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr18:22057268G>T	ENST00000256906.4	+	3	1015	c.915G>T	c.(913-915)ctG>ctT	p.L305L	HRH4_ENST00000426880.2_Silent_p.L217L	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	305						integral to membrane|plasma membrane	histamine receptor activity	p.A306S(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	CCAAGTCACTGGCCATTCTCT	0.433000													66	199					3.00472e-47	5.20027e-47	0.014410	1	0
MXRA5	25878	broad.mit.edu	37	X	3235848	3235848	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:3235848C>A	ENST00000217939.6	-	6	6028	c.5874G>T	c.(5872-5874)caG>caT	p.Q1958H		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1958	Ig-like C2-type 4.					extracellular region		p.Q1958H(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CAGTGACGTCCTGGTAGTGGG	0.572000													9	37					0.00448238	0.00492152	0.004482	1	0
ITIH5	80760	broad.mit.edu	37	10	7657998	7657998	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr10:7657998C>A	ENST00000256861.6	-	7	964	c.886G>T	c.(886-888)Gtg>Ttg	p.V296L	ITIH5_ENST00000446830.2_Missense_Mutation_p.V78L|ITIH5_ENST00000397145.2_Missense_Mutation_p.V296L|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.V296L|ITIH5_ENST00000298441.6_Missense_Mutation_p.V82L	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	296	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.V296L(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						ACGAATACCACATTCTTGGGT	0.473000													4	84					0.00024832	0.000292572	0.009096	1	0
SGIP1	84251	broad.mit.edu	37	1	67147924	67147924	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:67147924C>A	ENST00000371037.4	+	15	1264	c.1187C>A	c.(1186-1188)aCa>aAa	p.T396K	SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.T400K|SGIP1_ENST00000371035.3_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	396	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	p.T396K(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TACTTAGAAACAATCTCATCT	0.507000													18	130					1.33834e-09	2.00969e-09	0.007413	1	0
SYT13	57586	broad.mit.edu	37	11	45274079	45274079	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:45274079C>G	ENST00000020926.3	-	4	850	c.739G>C	c.(739-741)Gac>Cac	p.D247H		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	247	C2 1.					transport vesicle		p.D247H(1)		breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						GAGAAGCGGTCGCAGGTCCTC	0.697000											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	47					0	0	0.002450	0	0
NECAB2	54550	broad.mit.edu	37	16	84014703	84014703	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:84014703G>T	ENST00000565691.1	+	3	903	c.181G>T	c.(181-183)Gtc>Ttc	p.V61F	NECAB2_ENST00000305202.4_Missense_Mutation_p.V144F			Q7Z6G3	NECA2_HUMAN	N-terminal EF-hand calcium binding protein 2	144	EF-hand 1.				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity|protein binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						GAATCACTCTGTCCTGAAGGC	0.562000													22	163					9.95505e-16	1.64249e-15	0.014323	1	0
SORCS3	22986	broad.mit.edu	37	10	106917010	106917010	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr10:106917010G>T	ENST00000369701.3	+	10	1824	c.1597G>T	c.(1597-1599)Gac>Tac	p.D533Y		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	533						integral to membrane	neuropeptide receptor activity	p.D533Y(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCCGGATGTGGACCTGAGAGG	0.567000													14	37					9.31168e-06	1.23306e-05	0.001855	1	0
TCL6	27004	broad.mit.edu	37	14	96137667	96137667	+	RNA	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:96137667G>A	ENST00000467865.1	+	0	2024				RP11-1070N10.6_ENST00000461160.1_RNA														p.?(1)		large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		caccctgctagaaaggacgtg	0.498000			T	TRA@	T-ALL								3	28					0	0	0.004672	0	0
OR6C1	390321	broad.mit.edu	37	12	55715183	55715183	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:55715183C>T	ENST00000379668.2	+	1	838	c.800C>T	c.(799-801)tCc>tTc	p.S267F		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S267F(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						GATAGAGTGTCCTTGAGCAAG	0.428000													10	135					0	0	0.006214	0	0
TPCN2	219931	broad.mit.edu	37	11	68846407	68846407	+	Silent	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:68846407C>T	ENST00000294309.3	+	16	1559	c.1458C>T	c.(1456-1458)ctC>ctT	p.L486L	TPCN2_ENST00000542467.1_Silent_p.L486L|TPCN2_ENST00000442692.2_3'UTR	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	486					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	p.L486L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AGATGCTGCTCAAGGTCTTTG	0.582000													12	64					0	0	0.002450	0	0
WDR52	55779	broad.mit.edu	37	3	113128135	113128135	+	Silent	SNP	A	A	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:113128135A>G	ENST00000393845.2	-	7	774	c.708T>C	c.(706-708)ttT>ttC	p.F236F	WDR52_ENST00000295868.2_Silent_p.F236F|WDR52-AS1_ENST00000498480.1_RNA|WDR52-AS1_ENST00000473329.1_RNA	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	236								p.F236F(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CGCTGTAGTTAAAGTCCACAT	0.388000													15	76					0	0	0.002450	0	0
WNK4	65266	broad.mit.edu	37	17	40948569	40948569	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:40948569G>C	ENST00000246914.5	+	18	3723	c.3702G>C	c.(3700-3702)gtG>gtC	p.1234_1234insV		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	0					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	p.V1222V(1)|p.V1234V(1)		NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GCAAGGGGGTGACATTCGCCG	0.647000													10	56					0	0	0.006214	0	0
HDGF	3068	broad.mit.edu	37	1	156713537	156713537	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:156713537C>T	ENST00000357325.5	-	5	937	c.623G>A	c.(622-624)cGg>cAg	p.R208Q	HDGF_ENST00000368209.5_Missense_Mutation_p.R201Q|HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000368206.5_Missense_Mutation_p.R224Q|HDGF_ENST00000416666.2_Missense_Mutation_p.R176Q|HDGF_ENST00000537739.1_Missense_Mutation_p.R208Q	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	208	Glu-rich.				cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	DNA binding|growth factor activity|heparin binding|nucleotide binding	p.R208Q(1)|p.R224Q(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		GGGAGGCCCCCGGCCAGAGCC	0.592000													6	16					0	0	0.001168	0	0
POLR3H	171568	broad.mit.edu	37	22	41926752	41926752	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr22:41926752G>A	ENST00000355209.4	-	5	843	c.500C>T	c.(499-501)tCa>tTa	p.S167L	POLR3H_ENST00000396504.2_Missense_Mutation_p.S167L|POLR3H_ENST00000407461.1_Missense_Mutation_p.S167L|POLR3H_ENST00000337566.5_Missense_Mutation_p.S138L	NM_001018050.2	NP_001018060.1	Q9Y535	RPC8_HUMAN	polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)	167					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	p.S167L(1)|p.S138L(1)		breast(1)|lung(5)|skin(1)|urinary_tract(1)	8						GGCATCTGCTGAGCTGGGCCC	0.617000													4	28					0	0	0.000602	0	0
ADCY8	114	broad.mit.edu	37	8	131792956	131792956	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:131792956C>T	ENST00000286355.5	-	18	5528	c.3436G>A	c.(3436-3438)Gcc>Acc	p.A1146T	ADCY8_ENST00000377928.3_Missense_Mutation_p.A1015T	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1146					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	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.A1146T(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TAATCAAAGGCAAAGCCCTGG	0.502000										HNSCC(32;0.087)			17	138					0	0	0.004990	0	0
IGLV2-23	28813	broad.mit.edu	37	22	23040618	23040618	+	RNA	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr22:23040618C>A	ENST00000390306.2	+	0	228																											CCCAGTCTGCCCTGACTCAGC	0.592000													17	161					1.15919e-05	1.5132e-05	0.008871	1	0
FNTB	2342	broad.mit.edu	37	14	65527989	65527989	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:65527989G>C	ENST00000246166.2	+	12	1507	c.1273G>C	c.(1273-1275)Gag>Cag	p.E425Q	CHURC1-FNTB_ENST00000542227.1_Missense_Mutation_p.E379Q|CHURC1-FNTB_ENST00000447296.2_Missense_Mutation_p.E459Q|CHURC1-FNTB_ENST00000448390.2_Missense_Mutation_p.E181Q|MAX_ENST00000341653.2_Intron	NM_002028.3	NP_002019.1			farnesyltransferase, CAAX box, beta									p.E425Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		AGGTTTTGAGGAGCTTAAGGA	0.532000													10	56					0	0	0.010729	0	0
OR5L2	26338	broad.mit.edu	37	11	55594977	55594977	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:55594977C>G	ENST00000378397.1	+	1	283	c.283C>G	c.(283-285)Cta>Gta	p.L95V		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L95I(1)|p.L95V(1)		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)				CATCTCCTTCCTAGGGTGCAT	0.458000										HNSCC(27;0.073)			17	154					0	0	0.007413	0	0
OLFML1	283298	broad.mit.edu	37	11	7530705	7530705	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:7530705G>A	ENST00000329293.3	+	3	889	c.495G>A	c.(493-495)atG>atA	p.M165I	CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000530135.1_Missense_Mutation_p.M165I|OLFML1_ENST00000528758.1_3'UTR	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	165	Olfactomedin-like.					extracellular region		p.M165I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GCTCTTGGATGAAAGATGCTG	0.413000													7	121					0	0	0.001984	0	0
TCF21	6943	broad.mit.edu	37	6	134210674	134210674	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:134210674G>A	ENST00000367882.4	+	1	399	c.139G>A	c.(139-141)Ggg>Agg	p.G47R	RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Missense_Mutation_p.G47R	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	47					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.G47R(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		CTGCGAGAATGGGTCTCCCCA	0.597000													6	37					0	0	0.001168	0	0
EMR1	2015	broad.mit.edu	37	19	6903852	6903852	+	Silent	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:6903852C>T	ENST00000312053.4	+	7	730	c.693C>T	c.(691-693)atC>atT	p.I231I	EMR1_ENST00000250572.8_Silent_p.I231I|EMR1_ENST00000450315.3_Intron|EMR1_ENST00000381404.4_Silent_p.I179I|EMR1_ENST00000381407.5_Silent_p.I90I	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	231	EGF-like 5; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.I231I(1)		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)					TGTGCCCCATCAATTCAACAT	0.488000													16	69					0	0	0.010504	0	0
ZC3H14	79882	broad.mit.edu	37	14	89069242	89069242	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:89069242C>T	ENST00000251038.5	+	12	1810	c.1585C>T	c.(1585-1587)Cca>Tca	p.P529S	ZC3H14_ENST00000302216.8_Intron|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000406216.3_Intron|ZC3H14_ENST00000555755.1_Missense_Mutation_p.P529S|ZC3H14_ENST00000555900.1_Missense_Mutation_p.P231S|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000556945.1_Intron|ZC3H14_ENST00000393514.5_Missense_Mutation_p.P504S|ZC3H14_ENST00000318308.6_Intron|ZC3H14_ENST00000336693.4_Intron	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	529						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding	p.P529S(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						CCCCAGCCCCCCAGGATACAT	0.468000													7	28					0	0	0.001984	0	0
VGLL3	389136	broad.mit.edu	37	3	87018166	87018166	+	Nonsense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:87018166G>A	ENST00000398399.2	-	3	874	c.511C>T	c.(511-513)Cag>Tag	p.Q171*	VGLL3_ENST00000383698.3_Nonsense_Mutation_p.Q171*	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.Q171*(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CCAGTGACCTGGAAGTCAGGA	0.592000													7	88					0	0	0.003080	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140755009	140755009	+	Silent	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:140755009C>G	ENST00000517434.1	+	1	1359	c.1359C>G	c.(1357-1359)ccC>ccG	p.P453P	PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1												p.P453P(1)		breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACCTTCCCCCATTCATCCT	0.527000													23	135					0	0	0.003330	0	0
ABCA10	10349	broad.mit.edu	37	17	67148553	67148553	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:67148553C>A	ENST00000269081.4	-	36	5115	c.4206G>T	c.(4204-4206)gaG>gaT	p.E1402D	ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1402	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity	p.E1402D(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CAGCCTCAGCCTCTGACATGT	0.488000													9	50					0.00621372	0.00675788	0.006214	1	0
PRKDC	5591	broad.mit.edu	37	8	48719705	48719705	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:48719705C>A	ENST00000314191.2	-	70	9793	c.9737G>T	c.(9736-9738)cGg>cTg	p.R3246L	PRKDC_ENST00000338368.3_Missense_Mutation_p.R3246L|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3247	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	p.R3247L(1)|p.R3246L(1)		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)				CACCTGCTTCCGGGCACTGTC	0.448000								Non-homologous end-joining					4	34					0.00909568	0.00981095	0.009096	1	0
NCOR2	9612	broad.mit.edu	37	12	124824973	124824973	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:124824973C>G	ENST00000356219.3	-	37	5531	c.5376G>C	c.(5374-5376)ttG>ttC	p.L1792F	NCOR2_ENST00000429285.2_Missense_Mutation_p.L1775F|NCOR2_ENST00000405201.1_Missense_Mutation_p.L1785F|NCOR2_ENST00000404621.1_Missense_Mutation_p.L1775F|NCOR2_ENST00000397355.1_Missense_Mutation_p.L1776F|NCOR2_ENST00000404121.2_Missense_Mutation_p.L1346F	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1793					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	p.L1785F(1)|p.L1792F(1)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TTGGTTTTGTCAAGTGTGTTG	0.612000													3	42					0	0	0.004672	0	0
ZNF197	10168	broad.mit.edu	37	3	44671009	44671009	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:44671009G>C	ENST00000396058.1	+	1	530	c.363G>C	c.(361-363)caG>caC	p.Q121H	ZNF197_ENST00000383744.4_Missense_Mutation_p.Q121H|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383745.2_Missense_Mutation_p.Q121H|ZNF197_ENST00000344387.4_Missense_Mutation_p.Q121H			O14709	ZN197_HUMAN	zinc finger protein 197	121	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q121H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		AGGAGCTGCAGAAAGACCTTG	0.562000													3	26					0	0	0.009096	0	0
UBA6	55236	broad.mit.edu	37	4	68539439	68539439	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:68539439G>A	ENST00000322244.4	-	7	581	c.522C>T	c.(520-522)tgC>tgT	p.C174C	UBA6_ENST00000420827.2_Silent_p.C174C	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	174					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						ACTGAGAACGGCAAAAGTCAT	0.318000													4	129					0	0	0.001168	0	0
KMT2C	58508	broad.mit.edu	37	7	151945153	151945153	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:151945153G>A	ENST00000355193.2	-	14	2584	c.2366C>T	c.(2365-2367)tCa>tTa	p.S789L	KMT2C_ENST00000262189.6_Missense_Mutation_p.S789L					lysine (K)-specific methyltransferase 2C									p.S789L(2)									AGGCAAGTCTGAAGAAGGTGT	0.433000													31	385					0	0	0.012213	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			5	27					0.00198382	0.00222333	0.001984	1	0
STUB1	10273	broad.mit.edu	37	16	731479	731479	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:731479G>A	ENST00000565677.1	+	3	791	c.184G>A	c.(184-186)Gac>Aac	p.D62N	STUB1_ENST00000564370.1_Missense_Mutation_p.D62N|STUB1_ENST00000219548.4_Missense_Mutation_p.D134N|STUB1_ENST00000566181.2_3'UTR			Q9UNE7	CHIP_HUMAN	STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase	134					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	p.D134N(1)		endometrium(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	6		Hepatocellular(780;0.00335)				CTTCGGGGACGACATCCCCAG	0.642000													6	21					0	0	0.001168	0	0
TSSC1	7260	broad.mit.edu	37	2	3217925	3217925	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:3217925C>A	ENST00000398659.4	-	6	732	c.592G>T	c.(592-594)Gct>Tct	p.A198S	TSSC1_ENST00000478754.1_5'UTR|TSSC1_ENST00000382125.4_Missense_Mutation_p.A171S|TSSC1_ENST00000443925.2_Missense_Mutation_p.A171S			Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	171							protein binding	p.A171S(1)		breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		CTTACCACAGCCTGGCTCGAG	0.443000													7	96					2.17888e-05	2.77724e-05	0.006214	1	0
MMS22L	253714	broad.mit.edu	37	6	97597850	97597850	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:97597850T>C	ENST00000275053.4	-	24	3794	c.3529A>G	c.(3529-3531)Agc>Ggc	p.S1177G	MMS22L_ENST00000369251.2_Missense_Mutation_p.S1137G	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	1177					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	p.S1177G(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TCTAAAATGCTGTAAACCTGG	0.418000													3	40					0	0	0.009096	0	0
NLRP9	338321	broad.mit.edu	37	19	56244354	56244354	+	Silent	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:56244354T>C	ENST00000332836.2	-	2	870	c.843A>G	c.(841-843)caA>caG	p.Q281Q		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	281	NACHT.					cytoplasm	ATP binding	p.Q281Q(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AATAGTGTTTTTGCATAGCCA	0.403000													15	68					0	0	0.004007	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720491	140720491	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:140720491G>T	ENST00000394576.2	+	1	1953	c.1953G>T	c.(1951-1953)caG>caT	p.Q651H	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1												p.Q651H(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCACGGCCAGCCCCCTCTCT	0.711000													8	67					7.48243e-07	1.02786e-06	0.006214	1	0
CDH20	28316	broad.mit.edu	37	18	59221445	59221445	+	Silent	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr18:59221445C>A	ENST00000262717.4	+	12	2321	c.1923C>A	c.(1921-1923)tcC>tcA	p.S641S	CDH20_ENST00000538374.1_Silent_p.S641S|CDH20_ENST00000536675.2_Silent_p.S641S			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	641					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S641S(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TCATTTTGTCCATGAGGCGGC	0.537000													21	82					2.37509e-13	3.82931e-13	0.010504	1	0
CLEC1B	51266	broad.mit.edu	37	12	10145867	10145867	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:10145867C>T	ENST00000428126.2	-	7	735	c.466G>A	c.(466-468)Gga>Aga	p.G156R	CLEC1B_ENST00000348658.4_Missense_Mutation_p.G156R|CLEC1B_ENST00000298527.6_Missense_Mutation_p.G189R			Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	189	C-type lectin.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity	p.G189R(1)|p.G98R(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						TTTCCTTTTCCATCTTCCAAA	0.353000													11	66					0	0	0.008291	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147926752	147926752	+	Nonsense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:147926752C>T	ENST00000361727.3	+	20	3778	c.3262C>T	c.(3262-3264)Cga>Tga	p.R1088*	CNTNAP2_ENST00000538075.1_Nonsense_Mutation_p.R147*	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1088	Laminin G-like 4.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.R1088*(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTTACAGATTCGATACAACCT	0.443000										HNSCC(39;0.1)			9	55					0	0	0.006214	0	0
IGSF1	3547	broad.mit.edu	37	X	130417006	130417006	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:130417006G>A	ENST00000370904.1	-	12	1783	c.873C>T	c.(871-873)gaC>gaT	p.D291D	IGSF1_ENST00000370910.1_Silent_p.D291D|IGSF1_ENST00000361420.3_Silent_p.D300D|IGSF1_ENST00000370903.3_Silent_p.D300D			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	300	Ig-like C2-type 3.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	p.D300D(2)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TATATGATGCGTCATAGTAAA	0.388000													17	100					0	0	0.004990	0	0
MEGF10	84466	broad.mit.edu	37	5	126791128	126791128	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:126791128T>C	ENST00000274473.6	+	25	3328	c.3061T>C	c.(3061-3063)Tgc>Cgc	p.C1021R	MEGF10_ENST00000503335.2_Missense_Mutation_p.C1021R|MEGF10_ENST00000510828.1_3'UTR	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	1021	Necessary for formation of large intracellular vacuoles.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		p.C1021R(1)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TTCAAGTAACTGCTCCCTAAG	0.418000													34	165					0	0	0.008740	0	0
MAN2A1	4124	broad.mit.edu	37	5	109155485	109155485	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:109155485A>G	ENST00000261483.4	+	14	3277	c.2225A>G	c.(2224-2226)gAt>gGt	p.D742G		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	742					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	p.D742G(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		AAAGTAGAAGATAGCGGAATT	0.328000													31	145					0	0	0.008361	0	0
ZC3H12B	340554	broad.mit.edu	37	X	64709219	64709219	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:64709219C>A	ENST00000338957.4	+	1	605	c.538C>A	c.(538-540)Ctt>Att	p.L180I	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.L169I	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	169							endonuclease activity|nucleic acid binding|zinc ion binding	p.L116I(1)|p.L30I(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGAATTGTCTCTTGAAGATGA	0.443000													16	114					4.14922e-12	6.54053e-12	0.004007	1	0
USH2A	7399	broad.mit.edu	37	1	215963401	215963401	+	Splice_Site	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:215963401C>G	ENST00000366943.2	-	51	10568	c.10182_splice	c.e51+1	p.K3394_splice	USH2A_ENST00000307340.3_Splice_Site_p.K3394_splice			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3394					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.K3394N(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TATCAATTACCTTCATCATCA	0.338000										HNSCC(13;0.011)			8	38					0	0	0.003080	0	0
SEC63	11231	broad.mit.edu	37	6	108224056	108224056	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:108224056G>A	ENST00000369002.4	-	12	1380	c.1201C>T	c.(1201-1203)Cat>Tat	p.H401Y		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	401	SEC63 1.				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	p.H401Y(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		ACCTTCTTATGATTAGAAACC	0.388000													12	158					0	0	0.013537	0	0
SWT1	54823	broad.mit.edu	37	1	185153463	185153463	+	Silent	SNP	A	A	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:185153463A>G	ENST00000367500.4	+	8	1392	c.1227A>G	c.(1225-1227)acA>acG	p.T409T	SWT1_ENST00000367501.3_Silent_p.T409T	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	409	PINc.							p.T409T(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						TTTTGAAGACAACAGAAGTAC	0.279000													4	32					0	0	0.000602	0	0
RPL7L1	285855	broad.mit.edu	37	6	42851245	42851245	+	Silent	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:42851245C>T	ENST00000493763.1	+	3	480	c.177C>T	c.(175-177)tcC>tcT	p.S59S	RPL7L1_ENST00000304734.5_Silent_p.S59S|RPL7L1_ENST00000397415.3_3'UTR|RPL7L1_ENST00000602561.1_Silent_p.S59S|RPL7L1_ENST00000424341.2_Silent_p.S59S	NM_198486.2	NP_940888.2	Q6DKI1	RL7L_HUMAN	ribosomal protein L7-like 1	59					translation	large ribosomal subunit	protein binding|structural constituent of ribosome	p.S59S(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6	Colorectal(47;0.196)		Colorectal(64;0.00237)|all cancers(41;0.00288)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.088)			TACATGATTCCTGGCGGCAGA	0.468000													5	72					0	0	0.000602	0	0
ZNF638	27332	broad.mit.edu	37	2	71650945	71650945	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:71650945C>G	ENST00000409544.1	+	22	4931	c.4301C>G	c.(4300-4302)gCc>gGc	p.A1434G	ZNF638_ENST00000264447.4_Missense_Mutation_p.A1434G|ZNF638_ENST00000409407.1_Missense_Mutation_p.A374G|ZNF638_ENST00000355812.3_Intron	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1434					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	p.A1434G(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AAACTTTCAGCCAAGGAATTT	0.418000													4	37					0	0	0.000602	0	0
HMMR	3161	broad.mit.edu	37	5	162900478	162900478	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:162900478G>A	ENST00000416990.2	+	9	971	c.474G>A	c.(472-474)aaG>aaA	p.K158K	HMMR_ENST00000432118.2_Silent_p.K186K|HMMR_ENST00000393915.4_Silent_p.K273K|HMMR_ENST00000353866.3_Silent_p.K257K|HMMR_ENST00000358715.3_Silent_p.K272K			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	272						cell surface|cytoplasm	hyaluronic acid binding	p.K272K(1)		cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		TAAGCCTTAAGCAGTCTCTTG	0.313000													3	41					0	0	0.004672	0	0
ZAN	7455	broad.mit.edu	37	7	100364793	100364793	+	RNA	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:100364793G>T	ENST00000542585.1	+	0	4921				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.G1591G(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGAACCGCGGGGGGATCCTGG	0.572000													5	29					1.23904e-05	1.59927e-05	0.000602	1	0
AQP10	89872	broad.mit.edu	37	1	154295719	154295719	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:154295719G>T	ENST00000484864.1	+	4	409	c.373G>T	c.(373-375)Gcc>Tcc	p.A125S	AQP10_ENST00000355197.4_3'UTR|AQP10_ENST00000324978.3_Missense_Mutation_p.A125S			Q96PS8	AQP10_HUMAN	aquaporin 10	125					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	p.A125S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTCCACAGATGCCCTACAGAA	0.542000													8	60					5.18039e-06	6.90969e-06	0.003080	1	0
EGF	1950	broad.mit.edu	37	4	110915979	110915979	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:110915979A>G	ENST00000265171.5	+	20	3393	c.2948A>G	c.(2947-2949)tAc>tGc	p.Y983C	EGF_ENST00000509793.1_Missense_Mutation_p.Y941C|EGF_ENST00000503392.1_Missense_Mutation_p.Y942C	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	983	EGF-like 9.				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	p.Y983C(1)		breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	CACGATGGGTACTGCCTCCAT	0.463000													10	65					0	0	0.010729	0	0
NCAPH	23397	broad.mit.edu	37	2	97031791	97031791	+	Nonsense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:97031791C>T	ENST00000455200.1	+	14	2138	c.1843C>T	c.(1843-1845)Cag>Tag	p.Q615*	NCAPH_ENST00000427946.1_Nonsense_Mutation_p.Q490*|NCAPH_ENST00000240423.4_Nonsense_Mutation_p.Q626*			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	626					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus		p.Q626*(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				AGCTGAGCCTCAGAAGGTACG	0.418000													10	44					0	0	0.008291	0	0
KCNC2	3747	broad.mit.edu	37	12	75434879	75434879	+	Nonstop_Mutation	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:75434879A>T	ENST00000341669.3	-	5	2431	c.1888T>A	c.(1888-1890)Tga>Aga	p.*630R	KCNC2_ENST00000549446.1_3'UTR|RP11-81K13.1_ENST00000550049.1_RNA|KCNC2_ENST00000350228.2_3'UTR|RP11-81K13.1_ENST00000549762.1_RNA|KCNC2_ENST00000548513.1_3'UTR|KCNC2_ENST00000298972.1_3'UTR|KCNC2_ENST00000550433.1_Nonstop_Mutation_p.*630R|RP11-81K13.1_ENST00000547040.1_RNA	NM_001260498.1	NP_001247427.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	0					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						TGGTCACATCAGGGCACATTC	0.463000													8	51					0	0	0.003080	0	0
PFKFB4	5210	broad.mit.edu	37	3	48575973	48575973	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:48575973C>A	ENST00000232375.3	-	7	702	c.590G>T	c.(589-591)tGc>tTc	p.C197F	PFKFB4_ENST00000416568.1_Missense_Mutation_p.C197F|PFKFB4_ENST00000383734.2_Missense_Mutation_p.C197F|PFKFB4_ENST00000536104.1_Missense_Mutation_p.C186F|PFKFB4_ENST00000541519.1_Missense_Mutation_p.C163F|PFKFB4_ENST00000545984.1_3'UTR|PFKFB4_ENST00000490115.1_5'UTR	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	197	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity	p.C197F(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GTTCTCATAGCACTCAATGCG	0.592000													8	40					0.00307968	0.00340991	0.003080	1	0
POTEF	728378	broad.mit.edu	37	2	130832523	130832523	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:130832523G>T	ENST00000357462.5	-	15	2615	c.2522C>A	c.(2521-2523)tCc>tAc	p.S841Y	POTEF_ENST00000409914.2_Missense_Mutation_p.S841Y			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	841	Actin-like.					cell cortex	ATP binding	p.S841Y(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GGTGTACAGGGACAGCACAGC	0.592000													12	92					8.60227e-14	1.39673e-13	0.004007	1	0
PDZRN3	23024	broad.mit.edu	37	3	73433185	73433185	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:73433185G>T	ENST00000263666.4	-	10	2646	c.2532C>A	c.(2530-2532)gaC>gaA	p.D844E	PDZRN3_ENST00000535920.1_Missense_Mutation_p.D566E|PDZRN3_ENST00000462146.2_Missense_Mutation_p.D501E|PDZRN3_ENST00000479530.1_Missense_Mutation_p.D561E|PDZRN3_ENST00000466780.1_Missense_Mutation_p.D501E	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	844							ubiquitin-protein ligase activity|zinc ion binding	p.D844E(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TCCGGCTCCCGTCGCTGGCTC	0.667000													10	40					0.000978159	0.00111807	0.010729	1	0
TMEM132D	121256	broad.mit.edu	37	12	129822344	129822344	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:129822344G>T	ENST00000422113.2	-	4	1460	c.1134C>A	c.(1132-1134)taC>taA	p.Y378*		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	378						integral to membrane		p.Y378*(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GCATGACCTCGTAGGAGGCGC	0.607000													45	133					1.48734e-19	2.52655e-19	0.013114	1	0
WDR7	23335	broad.mit.edu	37	18	54358458	54358458	+	Silent	SNP	C	C	T	rs143311376		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr18:54358458C>T	ENST00000254442.3	+	8	940	c.729C>T	c.(727-729)gcC>gcT	p.A243A	WDR7_ENST00000357574.3_Silent_p.A243A|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	243								p.A243A(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TGTTCGATGCCGGAGACTATT	0.403000													28	126					0	0	0.006320	0	0
MSH2	4436	broad.mit.edu	37	2	47690262	47690262	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:47690262G>T	ENST00000406134.1	+	9	1541	c.1479G>T	c.(1477-1479)caG>caT	p.Q493H	MSH2_ENST00000543555.1_Missense_Mutation_p.Q427H|MSH2_ENST00000233146.2_Missense_Mutation_p.Q493H			P43246	MSH2_HUMAN	mutS homolog 2	493					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(2)|p.Q493H(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGAAGATGCAGTCAACATTAA	0.348000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				16	88					1.45105e-14	2.36859e-14	0.006122	1	0
MCAM	4162	broad.mit.edu	37	11	119183321	119183321	+	Silent	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:119183321C>A	ENST00000392814.1	-	2	1353	c.624G>T	c.(622-624)gtG>gtT	p.V208V	MCAM_ENST00000264036.4_Silent_p.V259V			P43121	MUC18_HUMAN	melanoma cell adhesion molecule	259	Ig-like V-type 2.				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane		p.V259V(1)		breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		TCAGCATTCCCACGGGCTCCA	0.582000													8	92					5.18039e-06	6.90969e-06	0.003080	1	0
EPHA5	2044	broad.mit.edu	37	4	66356384	66356384	+	Silent	SNP	A	A	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:66356384A>G	ENST00000273854.3	-	5	1713	c.1113T>C	c.(1111-1113)acT>acC	p.T371T	EPHA5_ENST00000511294.1_Silent_p.T371T|EPHA5_ENST00000354839.4_Silent_p.T371T|EPHA5_ENST00000432638.2_Intron	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	371	Fibronectin type-III 1.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.T371T(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GAAAGACACTAGTTTCATTAA	0.418000										TSP Lung(17;0.13)			4	48					0	0	0.009096	0	0
A1BG	1	broad.mit.edu	37	19	58862863	58862863	+	Silent	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:58862863C>A	ENST00000263100.3	-	5	865	c.804G>T	c.(802-804)gcG>gcT	p.A268A	A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000593960.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	268	Ig-like V-type 3.					extracellular region		p.A268A(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		CCAGGGCCACCGCGTTCAGGT	0.632000													11	34					6.40141e-05	7.90712e-05	0.010729	1	0
HEPH	9843	broad.mit.edu	37	X	65480070	65480070	+	Silent	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:65480070C>A	ENST00000519389.1	+	19	3506	c.3327C>A	c.(3325-3327)ggC>ggA	p.G1109G	HEPH_ENST00000343002.2_Silent_p.G1055G|HEPH_ENST00000374727.3_Silent_p.G1058G|HEPH_ENST00000419594.1_Silent_p.G866G|HEPH_ENST00000441993.2_Silent_p.G1058G|HEPH_ENST00000336279.5_Silent_p.G788G			Q9BQS7	HEPH_HUMAN	hephaestin	1055					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.G1055G(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TCCATGCTGGCATGGAGACCC	0.483000													12	31					0.000151284	0.000181502	0.001855	1	0
MAP3K19	80122	broad.mit.edu	37	2	135744683	135744683	+	Silent	SNP	A	A	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:135744683A>G	ENST00000375845.3	-	7	1789	c.1759T>C	c.(1759-1761)Ttg>Ctg	p.L587L	MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Silent_p.L604L|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Silent_p.L474L	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19									p.L587L(1)									AACCTGGGCAATTGCCAAGGC	0.423000													25	170					0	0	0.002780	0	0
LRP1B	53353	broad.mit.edu	37	2	141027886	141027886	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:141027886C>G	ENST00000389484.3	-	86	14143	c.13172G>C	c.(13171-13173)tGt>tCt	p.C4391S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4391	EGF-like 14.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.C4391S(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)		ACATAACTGACAGCTAGAGGC	0.413000										TSP Lung(27;0.18)			6	55					0	0	0.001168	0	0
SERPINA12	145264	broad.mit.edu	37	14	94964298	94964298	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:94964298G>A	ENST00000341228.2	-	3	1232	c.437C>T	c.(436-438)cCa>cTa	p.P146L	SERPINA12_ENST00000556881.1_Missense_Mutation_p.P146L	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	146					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.P146L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		CTTACGCTGTGGCTGCAGCCT	0.478000													21	112					0	0	0.010504	0	0
HIST1H2AC	8334	broad.mit.edu	37	6	26124671	26124671	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:26124671G>A	ENST00000602637.1	+	1	241	c.211G>A	c.(211-213)Gct>Act	p.A71T	HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.A71T			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	71					nucleosome assembly	nucleosome|nucleus	DNA binding	p.A71T(1)		NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						CGGCAACGCGGCTCGCGACAA	0.647000													11	34					0	0	0.013537	0	0
CYFIP1	23191	broad.mit.edu	37	15	22935909	22935909	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr15:22935909A>G	ENST00000313077.7	+	9	970	c.845A>G	c.(844-846)tAt>tGt	p.Y282C	CYFIP1_ENST00000560848.1_Missense_Mutation_p.Y282C	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	282					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	p.Y282C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		AGTAACATCTATAAGTTGGAT	0.368000													11	72					0	0	0.002450	0	0
TTN	7273	broad.mit.edu	37	2	179422925	179422925	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:179422925G>T	ENST00000589042.1	-	328	87380	c.87156C>A	c.(87154-87156)caC>caA	p.H29052Q	TTN_ENST00000342992.6_Missense_Mutation_p.H26484Q|TTN_ENST00000359218.5_Missense_Mutation_p.H20112Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.H20179Q|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.H27411Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.H19987Q|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27411	Fibronectin type-III 111.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.H26482Q(1)|p.H20112Q(1)|p.H26484Q(1)|p.H20179Q(1)|p.H19987Q(1)		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)			CATATACAGTGTGACTTGGGA	0.353000													5	43					1.23904e-05	1.59927e-05	0.000602	1	0
FAM135B	51059	broad.mit.edu	37	8	139163754	139163754	+	Silent	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:139163754A>T	ENST00000395297.1	-	13	3134	c.2964T>A	c.(2962-2964)acT>acA	p.T988T		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	988								p.T988T(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AATGGGTCACAGTGGGGCACA	0.498000										HNSCC(54;0.14)			4	84					0	0	0.009096	0	0
GOLIM4	27333	broad.mit.edu	37	3	167761305	167761305	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:167761305C>G	ENST00000470487.1	-	5	1068	c.379G>C	c.(379-381)Gag>Cag	p.E127Q	GOLIM4_ENST00000309027.4_Missense_Mutation_p.E127Q	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	127	Endosome targeting.				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		p.E127Q(1)		breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TTCTTTAGCTCCTCGTGTTGG	0.368000													19	110					0	0	0.010504	0	0
C12orf74	338809	broad.mit.edu	37	12	93100630	93100630	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:93100630G>A	ENST00000544406.2	+	2	489	c.223G>A	c.(223-225)Gga>Aga	p.G75R	C12orf74_ENST00000397833.3_Missense_Mutation_p.G75R			Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	75								p.G75R(1)		kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						GGGAAGCTGGGGAGCTCCTGT	0.582000													19	53					0	0	0.008871	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808542	18808542	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:18808542C>T	ENST00000400664.1	+	1	1119	c.1067C>T	c.(1066-1068)tCc>tTc	p.S356F		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	356						integral to membrane		p.S356F(1)		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)		CCGTGGCCCTCCACCCGAGGC	0.687000													3	19					0	0	0.004672	0	0
ANKRD44	91526	broad.mit.edu	37	2	197872649	197872649	+	Splice_Site	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:197872649T>A	ENST00000328737.2	-	20	2014		c.e20-2		ANKRD44_ENST00000450567.1_Splice_Site|ANKRD44_ENST00000337207.5_Splice_Site|ANKRD44_ENST00000282272.8_Splice_Site			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44								protein binding	p.?(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AGTGGTGTTCTAGGCAGAGAG	0.403000													13	89					0	0	0.001855	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801020	185801020	+	Silent	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:185801020C>A	ENST00000302277.6	+	4	1491	c.897C>A	c.(895-897)gtC>gtA	p.V299V		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	299						intracellular	zinc ion binding	p.V299V(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TAAAAGAAGTCTCTAGTGAAA	0.353000													6	40					8.12818e-05	9.85462e-05	0.001984	1	0
MFN1	55669	broad.mit.edu	37	3	179104270	179104270	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:179104270A>G	ENST00000471841.1	+	16	1991	c.1865A>G	c.(1864-1866)tAt>tGt	p.Y622C	MFN1_ENST00000280653.7_Missense_Mutation_p.Y511C|MFN1_ENST00000263969.5_Missense_Mutation_p.Y622C	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	622					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	p.Y622C(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TTAACTATGTATGGAGCTTTG	0.393000													11	79					0	0	0.008291	0	0
LEPRE1	64175	broad.mit.edu	37	1	43215927	43215927	+	Silent	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:43215927C>T	ENST00000236040.4	-	11	1690	c.1650G>A	c.(1648-1650)gaG>gaA	p.E550E	LEPRE1_ENST00000296388.5_Silent_p.E550E|LEPRE1_ENST00000397054.3_Silent_p.E550E	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	550					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	p.E550E(2)		large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GGAAGTAGGACTCCATGATGC	0.587000													4	12					0	0	0.009096	0	0
NRK	203447	broad.mit.edu	37	X	105190361	105190361	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:105190361G>C	ENST00000428173.2	+	26	4564	c.4261G>C	c.(4261-4263)Gaa>Caa	p.E1421Q	NRK_ENST00000243300.9_Missense_Mutation_p.E1420Q			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1420	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.E1420Q(1)|p.E1421Q(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TATTGGTTCTGAAAAAAGACT	0.393000										HNSCC(51;0.14)			6	44					0	0	0.001168	0	0
HNF4G	3174	broad.mit.edu	37	8	76452273	76452273	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:76452273A>G	ENST00000396423.2	+	1	170	c.46A>G	c.(46-48)Act>Gct	p.T16A	HNF4G_ENST00000354370.1_Intron	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	0					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.T16A(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			AACTTACACAACTTTGGAGTT	0.348000													12	83					0	0	0.013537	0	0
PDGFD	80310	broad.mit.edu	37	11	103797775	103797775	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:103797775C>A	ENST00000302251.5	-	6	1285	c.834G>T	c.(832-834)gaG>gaT	p.E278D	PDGFD_ENST00000393158.2_Missense_Mutation_p.E284D	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	284					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity	p.E284D(2)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		CCAACTTCAGCTCTTCTCTTA	0.488000													7	46					0.000157383	0.000187838	0.003080	1	0
DNAH8	1769	broad.mit.edu	37	6	38854628	38854628	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:38854628C>A	ENST00000359357.3	+	55	7924	c.7670C>A	c.(7669-7671)cCt>cAt	p.P2557H	DNAH8_ENST00000449981.2_Missense_Mutation_p.P2774H|DNAH8_ENST00000441566.1_Missense_Mutation_p.P2521H					dynein, axonemal, heavy chain 8									p.P2557H(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTGGACAAGCCTGGAGACTTC	0.388000													10	71					3.86212e-05	4.81586e-05	0.008291	1	0
EPM2AIP1	9852	broad.mit.edu	37	3	37034182	37034182	+	Silent	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:37034182C>G	ENST00000322716.5	-	1	613	c.387G>C	c.(385-387)ctG>ctC	p.L129L		NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	129						endoplasmic reticulum		p.L129L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						GTACCTCTCTCAGCAACACCT	0.577000													10	117					0	0	0.013537	0	0
RBFOX1	54715	broad.mit.edu	37	16	7383060	7383060	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:7383060G>T	ENST00000340209.4	+	1	310	c.13G>T	c.(13-15)Gca>Tca	p.A5S	RBFOX1_ENST00000550418.1_Intron|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A20S|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A20S|RBFOX1_ENST00000422070.4_Intron|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000547372.1_Intron|RBFOX1_ENST00000552089.1_Intron|RBFOX1_ENST00000547338.1_Intron|RBFOX1_ENST00000553186.1_Intron|RBFOX1_ENST00000355637.4_Missense_Mutation_p.A20S			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	0					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	p.A20S(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GATTGTACCGGCAGCTCCTTA	0.463000													25	112					7.07758e-08	1.00842e-07	0.004656	1	0
IL9R	3581	broad.mit.edu	37	X	155239571	155239571	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:155239571G>T	ENST00000424344.3	+	10	1367	c.1000G>T	c.(1000-1002)Gcc>Tcc	p.A334S	IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000244174.5_Missense_Mutation_p.A355S			Q01113	IL9R_HUMAN	interleukin 9 receptor	355					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	p.A355S(1)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CGTCCAGGAGGCCACTGCACT	0.667000													7	92					8.12818e-05	9.85462e-05	0.001984	1	0
SLC17A7	57030	broad.mit.edu	37	19	49938490	49938490	+	Silent	SNP	A	A	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:49938490A>G	ENST00000221485.3	-	3	540	c.369T>C	c.(367-369)ttT>ttC	p.F123F	SLC17A7_ENST00000600601.1_Silent_p.F56F|SLC17A7_ENST00000543531.1_Silent_p.F111F	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	123					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity	p.F123F(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		AGCCCCAGAAAAAGGAGCCGT	0.512000													35	185					0	0	0.004878	0	0
DNAJC6	9829	broad.mit.edu	37	1	65864515	65864515	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:65864515G>A	ENST00000395325.3	+	14	2044	c.1887G>A	c.(1885-1887)gtG>gtA	p.V629V	DNAJC6_ENST00000371069.4_Silent_p.V686V|DNAJC6_ENST00000263441.7_Silent_p.V616V	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	629	Pro-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	p.V629V(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						CGCCTGCTGTGAACATTCAGC	0.403000													5	66					0	0	0.001168	0	0
NSUN2	54888	broad.mit.edu	37	5	6620271	6620271	+	Missense_Mutation	SNP	C	C	A	rs140003855	byFrequency	TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:6620271C>A	ENST00000264670.6	-	7	1074	c.763G>T	c.(763-765)Ggc>Tgc	p.G255C	NSUN2_ENST00000506139.1_Missense_Mutation_p.G220C|NSUN2_ENST00000539938.1_Missense_Mutation_p.G19C|NSUN2_ENST00000505264.1_5'UTR	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	255						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	p.G255F(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						TCTTTCCTGCCGTCCACATCT	0.478000													10	77					6.40141e-05	7.90712e-05	0.010729	1	0
WNT10A	80326	broad.mit.edu	37	2	219746998	219746998	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:219746998C>T	ENST00000258411.3	+	2	862	c.229C>T	c.(229-231)Cgt>Tgt	p.R77C		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	77					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	p.R77C(1)		breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTGTGTGTGCGTCACCCTGA	0.612000													8	44					0	0	0.006214	0	0
SLC52A3	113278	broad.mit.edu	37	20	744288	744288	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr20:744288G>A	ENST00000381944.3	-	3	1168	c.927C>T	c.(925-927)ttC>ttT	p.F309F	SLC52A3_ENST00000473664.1_Intron|SLC52A3_ENST00000217254.7_Silent_p.F309F			Q9NQ40	RFT2_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	309					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity	p.F309F(1)									GCGCGTTGACGAAGGCCACCA	0.637000													8	68					0	0	0.006214	0	0
OR10G8	219869	broad.mit.edu	37	11	123900895	123900895	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:123900895C>A	ENST00000431524.1	+	1	599	c.566C>A	c.(565-567)gCa>gAa	p.A189E		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A189E(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CTGGCCTGTGCAGACACCTCA	0.512000													26	145					2.27525e-19	3.85786e-19	0.003954	1	0
TEP1	7011	broad.mit.edu	37	14	20876171	20876171	+	Missense_Mutation	SNP	C	C	T	rs111250999		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:20876171C>T	ENST00000262715.5	-	2	468	c.428G>A	c.(427-429)cGt>cAt	p.R143H	TEP1_ENST00000556935.1_Missense_Mutation_p.R143H	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	143					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.R143H(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GTTGTTCACACGGTACAAATC	0.517000													10	139					0	0	0.010729	0	0
LMOD2	442721	broad.mit.edu	37	7	123296091	123296091	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:123296091T>C	ENST00000458573.2	+	1	231	c.74T>C	c.(73-75)cTg>cCg	p.L25P	LMOD2_ENST00000456238.2_Missense_Mutation_p.L25P	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	25	Glu-rich.|Tropomyosin-binding (By similarity).					cytoskeleton	actin binding|tropomyosin binding	p.L25P(1)									CTCGCCTCCCTGTCAGCCGAG	0.532000													3	11					0	0	0.001168	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12884937	12884937	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:12884937C>T	ENST00000535591.1	-	4	1369	c.1174G>A	c.(1174-1176)Gct>Act	p.A392T		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	392								p.A392T(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						CTAATTTGAGCAAATCTGCTC	0.502000													6	228					0	0	0.004482	0	0
TIAM1	7074	broad.mit.edu	37	21	32492988	32492988	+	Nonsense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr21:32492988G>A	ENST00000286827.3	-	29	4945	c.4474C>T	c.(4474-4476)Cag>Tag	p.Q1492*	TIAM1_ENST00000541036.1_Nonsense_Mutation_p.Q1432*	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1492					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.Q1492*(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TCCTCATACTGAGCAAGATCA	0.562000													7	49					0	0	0.001984	0	0
FBN2	2201	broad.mit.edu	37	5	127595411	127595411	+	Silent	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:127595411G>T	ENST00000508053.1	-	71	9449	c.8475C>A	c.(8473-8475)atC>atA	p.I2825I	FBN2_ENST00000262464.4_Silent_p.I2825I			P35556	FBN2_HUMAN	fibrillin 2	2825					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.I2825I(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGAGGGGCTGGATGGCGGGCC	0.552000													21	96					4.54149e-19	7.67211e-19	0.014323	1	0
ZNF429	353088	broad.mit.edu	37	19	21720247	21720247	+	Silent	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:21720247G>T	ENST00000358491.4	+	4	1600	c.1392G>T	c.(1390-1392)cgG>cgT	p.R464R	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	464					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R464R(1)		endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						CTTTTAACCGGTCCTCACACC	0.388000													4	30					0.00909568	0.00981095	0.009096	1	0
TEP1	7011	broad.mit.edu	37	14	20841524	20841524	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:20841524G>C	ENST00000262715.5	-	47	6759	c.6719C>G	c.(6718-6720)cCa>cGa	p.P2240R	TEP1_ENST00000545983.1_Missense_Mutation_p.P578R|TEP1_ENST00000556935.1_Missense_Mutation_p.P2132R	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2240					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.P2240R(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGCACGGACTGGGCCGCTGTG	0.577000													4	62					0	0	0.009096	0	0
ITK	3702	broad.mit.edu	37	5	156608074	156608074	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:156608074G>T	ENST00000422843.3	+	1	238	c.86G>T	c.(85-87)cGc>cTc	p.R29L		NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	29	PH.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.R29L(2)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTTAAAGTCCGCTTCTTTGTG	0.398000			T	SYK	peripheral T-cell lymphoma								12	148					1.5842e-08	2.29272e-08	0.001855	1	0
RANBP2	5903	broad.mit.edu	37	2	109384690	109384690	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:109384690G>T	ENST00000283195.6	+	20	7821	c.7695G>T	c.(7693-7695)caG>caT	p.Q2565H		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2565					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	p.Q2565H(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CAGTAGCCCAGAGTGGATCTG	0.378000													42	278					1.52319e-26	2.62628e-26	0.008740	1	0
LRRC40	55631	broad.mit.edu	37	1	70654875	70654875	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:70654875C>A	ENST00000370952.3	-	2	312	c.233G>T	c.(232-234)tGg>tTg	p.W78L		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	78								p.W78L(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						CTGCTCCCACCATCTTTCAGT	0.433000													6	95					5.18039e-06	6.90969e-06	0.003080	1	0
MYO16	23026	broad.mit.edu	37	13	109438076	109438076	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr13:109438076T>A	ENST00000356711.2	+	5	661	c.535T>A	c.(535-537)Tat>Aat	p.Y179N	MYO16_ENST00000357550.2_Missense_Mutation_p.Y179N|MYO16_ENST00000251041.5_Missense_Mutation_p.Y179N|MYO16_ENST00000467639.1_3'UTR	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	179					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	p.Y179N(1)		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)			CCTGTTGACCTATCTGGATGA	0.378000													5	54					0	0	0.000602	0	0
NSUN2	54888	broad.mit.edu	37	5	6620270	6620270	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:6620270C>A	ENST00000264670.6	-	7	1075	c.764G>T	c.(763-765)gGc>gTc	p.G255V	NSUN2_ENST00000506139.1_Missense_Mutation_p.G220V|NSUN2_ENST00000539938.1_Missense_Mutation_p.G19V|NSUN2_ENST00000505264.1_5'UTR	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	255						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	p.G255F(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						CTCTTTCCTGCCGTCCACATC	0.473000													10	78					6.40141e-05	7.90712e-05	0.010729	1	0
HFM1	164045	broad.mit.edu	37	1	91742270	91742270	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:91742270A>G	ENST00000370425.3	-	32	3601	c.3503T>C	c.(3502-3504)aTt>aCt	p.I1168T	HFM1_ENST00000294696.5_Missense_Mutation_p.I400T|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.I847T	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1168							ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.I1168T(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TGACTCTTTAATTTCTGACTT	0.294000													3	12					0	0	0.009096	0	0
ADAM33	80332	broad.mit.edu	37	20	3655286	3655286	+	Silent	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr20:3655286G>T	ENST00000356518.2	-	6	706	c.465C>A	c.(463-465)ccC>ccA	p.P155P	ADAM33_ENST00000379861.4_Silent_p.P155P|ADAM33_ENST00000350009.2_Silent_p.P155P	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	155					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.P155P(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						TGGAGCCCCGGGGTGGCCAGG	0.607000													16	130					2.23348e-06	3.01406e-06	0.004007	1	0
RYR1	6261	broad.mit.edu	37	19	38931492	38931492	+	Silent	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:38931492T>C	ENST00000355481.4	+	2	284	c.153T>C	c.(151-153)acT>acC	p.T51T	RYR1_ENST00000360985.3_Silent_p.T51T|RYR1_ENST00000359596.3_Silent_p.T51T	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	51					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	p.T51T(1)		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)	TGGAGCCCACTAGCAACGCGC	0.642000													3	28					0	0	0.009096	0	0
KDM3B	51780	broad.mit.edu	37	5	137727215	137727215	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:137727215G>C	ENST00000314358.5	+	8	2094	c.1894G>C	c.(1894-1896)Gag>Cag	p.E632Q	KDM3B_ENST00000394866.1_Missense_Mutation_p.E288Q|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	632					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.E632Q(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GTCCCGAGAAGAGCCTTCTAA	0.502000													17	107					0	0	0.007413	0	0
PEAK1	79834	broad.mit.edu	37	15	77471964	77471964	+	Nonsense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr15:77471964G>A	ENST00000560626.2	-	4	2780	c.2305C>T	c.(2305-2307)Cag>Tag	p.Q769*	PEAK1_ENST00000558305.1_Nonsense_Mutation_p.Q769*|PEAK1_ENST00000312493.4_Nonsense_Mutation_p.Q769*			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	769					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.Q769*(2)									GCCACAATCTGAGAAAGCACT	0.522000													7	64					0	0	0.001984	0	0
PCDH10	57575	broad.mit.edu	37	4	134072243	134072243	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:134072243G>T	ENST00000264360.4	+	1	1774	c.948G>T	c.(946-948)ttG>ttT	p.L316F		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	316	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L316_D317>FY(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCGGCGAGTTGGACTATGAAG	0.622000													8	54					7.48243e-07	1.02786e-06	0.006214	1	0
ACBD3	64746	broad.mit.edu	37	1	226349305	226349305	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:226349305C>G	ENST00000366812.5	-	4	709	c.655G>C	c.(655-657)Gag>Cag	p.E219Q	ACBD3_ENST00000464927.1_5'UTR	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	219	Arg-rich.|Glu-rich.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding	p.E219Q(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		agcctttcctcttcttctctc	0.468000													17	36					0	0	0.004007	0	0
FAM161A	84140	broad.mit.edu	37	2	62067223	62067223	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:62067223G>A	ENST00000404929.1	-	3	927	c.916C>T	c.(916-918)Cgg>Tgg	p.R306W	FAM161A_ENST00000405894.3_Missense_Mutation_p.R306W	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	306					response to stimulus|visual perception	centrosome		p.R306W(4)|p.R197W(2)		breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GACCTTCTCCGTTCTTCTTTT	0.443000													28	206					0	0	0.008361	0	0
GRM8	2918	broad.mit.edu	37	7	126173904	126173904	+	Missense_Mutation	SNP	T	T	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:126173904T>G	ENST00000339582.2	-	9	2340	c.1532A>C	c.(1531-1533)cAc>cCc	p.H511P	GRM8_ENST00000444921.2_Missense_Mutation_p.H511P|GRM8_ENST00000358373.3_Missense_Mutation_p.H511P|GRM8_ENST00000480995.1_Intron			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	511					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.H511P(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AGACGCCGGGTGAGTATGTTC	0.493000										HNSCC(24;0.065)			5	73					0	0	0.001984	0	0
PCDH17	27253	broad.mit.edu	37	13	58209170	58209170	+	Silent	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr13:58209170G>C	ENST00000377918.3	+	1	2516	c.2490G>C	c.(2488-2490)gcG>gcC	p.A830A		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	830					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.A830A(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AGGGGCACGCGGGCTGCCACA	0.592000													5	19					0	0	0.000602	0	0
TECTA	7007	broad.mit.edu	37	11	120998690	120998690	+	Silent	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:120998690G>T	ENST00000392793.1	+	9	2275	c.2004G>T	c.(2002-2004)acG>acT	p.T668T	TECTA_ENST00000264037.2_Silent_p.T668T			O75443	TECTA_HUMAN	tectorin alpha	668					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		p.T668T(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TCTGGGCCACGGCCAACTGCA	0.647000													8	45					1.26484e-09	1.90556e-09	0.003080	1	0
EIF4G3	8672	broad.mit.edu	37	1	21177755	21177755	+	Missense_Mutation	SNP	C	C	A	rs34661194	byFrequency	TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:21177755C>A	ENST00000602326.1	-	26	4201	c.3618G>T	c.(3616-3618)gaG>gaT	p.E1206D	EIF4G3_ENST00000536266.1_Missense_Mutation_p.E804D|EIF4G3_ENST00000374935.3_Missense_Mutation_p.E920D|EIF4G3_ENST00000374937.3_Missense_Mutation_p.E1206D|EIF4G3_ENST00000400422.1_Missense_Mutation_p.E1200D|EIF4G3_ENST00000264211.8_Missense_Mutation_p.E1200D|EIF4G3_ENST00000537738.1_Missense_Mutation_p.E690D	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1200					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	p.E1206D(1)|p.E1200D(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TCTCACCTGACTCCCTTGTTT	0.443000													10	73					7.48243e-07	1.02786e-06	0.006214	1	0
MBD5	55777	broad.mit.edu	37	2	149247498	149247498	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:149247498G>T	ENST00000407073.1	+	12	4595	c.3598G>T	c.(3598-3600)Gag>Tag	p.E1200*	MBD5_ENST00000404807.1_Nonsense_Mutation_p.E1433*	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1200						chromosome|nucleus	chromatin binding|DNA binding	p.E1200*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GTGGGACGGGGAGCAAAGCCC	0.473000													5	82					1.23904e-05	1.59927e-05	0.000602	1	0
SIRT7	51547	broad.mit.edu	37	17	79872368	79872368	+	Silent	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:79872368C>A	ENST00000328666.6	-	7	680	c.618G>T	c.(616-618)cgG>cgT	p.R206R		NM_016538.2	NP_057622.1	Q9NRC8	SIRT7_HUMAN	sirtuin 7	206	Deacetylase sirtuin-type.				chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding	p.R206L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CATCGAACACCCGCACGTACT	0.632000													6	56					1.12685e-05	1.47308e-05	0.004482	1	0
ANKIB1	54467	broad.mit.edu	37	7	92000797	92000797	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:92000797G>C	ENST00000265742.3	+	11	1869	c.1493G>C	c.(1492-1494)gGa>gCa	p.G498A		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	498							protein binding|zinc ion binding	p.G498A(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAAGTTGTGGGAGTTAGTGAA	0.408000													7	9					0	0	0.001984	0	0
OR6N1	128372	broad.mit.edu	37	1	158735635	158735635	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:158735635C>A	ENST00000335094.2	-	1	857	c.838G>T	c.(838-840)Gtg>Ttg	p.V280L		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V280L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GGTGTGAGCACTGAGTAGACC	0.507000													9	153					0.000274275	0.000319872	0.004482	1	0
SCAF8	22828	broad.mit.edu	37	6	155153150	155153150	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:155153150C>G	ENST00000367178.3	+	20	3013	c.2437C>G	c.(2437-2439)Ctg>Gtg	p.L813V	SCAF8_ENST00000417268.1_Missense_Mutation_p.L813V|SCAF8_ENST00000367186.4_Missense_Mutation_p.L879V	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	813	Pro-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	p.L813V(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						TTCTGGAATTCTGGGAGTCCA	0.403000													17	93					0	0	0.008871	0	0
CEP112	201134	broad.mit.edu	37	17	63898446	63898446	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:63898446C>A	ENST00000392769.2	-	20	2205	c.1987G>T	c.(1987-1989)Gag>Tag	p.E663*	CEP112_ENST00000541355.1_Nonsense_Mutation_p.E298*|CEP112_ENST00000535342.2_Nonsense_Mutation_p.E663*|CEP112_ENST00000537949.1_Nonsense_Mutation_p.E621*	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	663						centrosome		p.E663*(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						AGCTTCAGCTCTACTATCTGA	0.433000													7	37					0.00307968	0.00340991	0.003080	1	0
FRMD3	257019	broad.mit.edu	37	9	85950546	85950546	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr9:85950546C>A	ENST00000304195.3	-	6	687	c.481G>T	c.(481-483)Ggt>Tgt	p.G161C	FRMD3_ENST00000376438.1_Missense_Mutation_p.G161C	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	161	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	p.G161C(1)|p.G57C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TCGTAATCACCAAGCTCAGCT	0.398000													8	26					1.06961e-07	1.51694e-07	0.003080	1	0
MFN1	55669	broad.mit.edu	37	3	179104264	179104264	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:179104264C>T	ENST00000471841.1	+	16	1985	c.1859C>T	c.(1858-1860)aCt>aTt	p.T620I	MFN1_ENST00000280653.7_Missense_Mutation_p.T509I|MFN1_ENST00000263969.5_Missense_Mutation_p.T620I	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	620					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	p.T620I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			GTTTCATTAACTATGTATGGA	0.388000													10	79					0	0	0.006214	0	0
PTPRC	5788	broad.mit.edu	37	1	198668740	198668740	+	Nonsense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:198668740C>T	ENST00000367376.2	+	5	511	c.340C>T	c.(340-342)Cag>Tag	p.Q114*	PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000442510.2_Nonsense_Mutation_p.Q116*|PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000352140.3_Nonsense_Mutation_p.Q114*|PTPRC_ENST00000594404.1_Intron	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	114					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.Q114*(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CGCAGACTCGCAGACGCCCTC	0.542000											OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	81					0	0	0.004482	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68179364	68179364	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:68179364C>A	ENST00000262215.3	-	12	2163	c.1774G>T	c.(1774-1776)Gga>Tga	p.G592*	ARFGEF1_ENST00000520381.1_Nonsense_Mutation_p.G46*	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	592					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	p.G592*(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CTGCCCCTTCCTTGAGCAATT	0.328000													12	71					1.5842e-08	2.29272e-08	0.001855	1	0
TCHH	7062	broad.mit.edu	37	1	152082950	152082950	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:152082950T>C	ENST00000368804.1	-	2	2742	c.2743A>G	c.(2743-2745)Aga>Gga	p.R915G		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	915	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding	p.R915G(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGCTCCTCTCTCTGTAGCTCC	0.597000													28	159					0	0	0.009535	0	0
FGFRL1	53834	broad.mit.edu	37	4	1018200	1018200	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:1018200G>T	ENST00000398484.2	+	7	1400	c.820G>T	c.(820-822)Gtg>Ttg	p.V274L	FGFRL1_ENST00000510644.1_Missense_Mutation_p.V274L|FGFRL1_ENST00000264748.6_Missense_Mutation_p.V274L|FGFRL1_ENST00000504138.1_Missense_Mutation_p.V274L			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	274	Ig-like C2-type 3.				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	p.V244L(1)|p.V274L(1)		endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCGCAGCGACGTGAAGCCGGT	0.667000													11	32					1.5842e-08	2.29272e-08	0.001855	1	0
CELF1	10658	broad.mit.edu	37	11	47493789	47493789	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:47493789G>A	ENST00000395290.2	-	12	1460	c.1451C>T	c.(1450-1452)cCc>cTc	p.P484L	CELF1_ENST00000310513.5_Missense_Mutation_p.P481L|CELF1_ENST00000358597.3_Missense_Mutation_p.P485L|CELF1_ENST00000395292.2_Missense_Mutation_p.P482L|CELF1_ENST00000531165.1_Missense_Mutation_p.P513L|CELF1_ENST00000532048.1_Missense_Mutation_p.P511L|CELF1_ENST00000539455.1_5'UTR|CELF1_ENST00000361904.3_Missense_Mutation_p.P482L	NM_001025596.2|NM_001172640.1	NP_001020767.1|NP_001166111.1	Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	485					embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding	p.P485L(1)		central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						CGCTCAGTAGGGCTTGCTGTC	0.542000													38	194					0	0	0.006230	0	0
MTOR	2475	broad.mit.edu	37	1	11182049	11182049	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:11182049C>G	ENST00000361445.4	-	48	6873	c.6797G>C	c.(6796-6798)cGc>cCc	p.R2266P	MTOR_ENST00000376838.1_Missense_Mutation_p.R471P	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2266	PI3K/PI4K.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	p.R2266P(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CAACATGATGCGATGCTCGAT	0.557000													5	23					0	0	0.001984	0	0
CEP290	80184	broad.mit.edu	37	12	88483117	88483117	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:88483117T>C	ENST00000552810.1	-	31	4064	c.3721A>G	c.(3721-3723)Aaa>Gaa	p.K1241E	CEP290_ENST00000309041.7_Missense_Mutation_p.K1243E|CEP290_ENST00000397838.3_Missense_Mutation_p.K301E|CEP290_ENST00000547691.2_Missense_Mutation_p.K301E	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1241					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	p.K1243E(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TCATCAAGTTTCTGCTCTAAG	0.438000													5	61					0	0	0.000602	0	0
SCEL	8796	broad.mit.edu	37	13	78167670	78167670	+	Silent	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr13:78167670C>T	ENST00000535157.1	+	11	818	c.648C>T	c.(646-648)atC>atT	p.I216I	SCEL_ENST00000377246.3_Intron|SCEL_ENST00000349847.3_Silent_p.I238I	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	238					embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding	p.I238I(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		TTGATAACATCGTCAAAGTGG	0.373000													6	64					0	0	0.003080	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537461	5537461	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:5537461C>A	ENST00000380184.1	-	1	474	c.211G>T	c.(211-213)Gtg>Ttg	p.V71L	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	71	Ubiquitin-like.							p.V71L(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		AAGACCAGCACTAGTTGGTCC	0.498000													9	70					0.000442599	0.000511634	0.006214	1	0
SEMA6A	57556	broad.mit.edu	37	5	115783374	115783374	+	Missense_Mutation	SNP	A	A	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:115783374A>C	ENST00000343348.6	-	19	2815	c.2028T>G	c.(2026-2028)caT>caG	p.H676Q	SEMA6A_ENST00000282394.6_Missense_Mutation_p.H153Q|SEMA6A_ENST00000503865.1_Missense_Mutation_p.H55Q|SEMA6A_ENST00000257414.8_Missense_Mutation_p.H693Q|CTB-118N6.3_ENST00000512128.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.H676Q|SEMA6A_ENST00000513137.1_Missense_Mutation_p.H103Q|CTB-118N6.3_ENST00000508424.1_RNA	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	676					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	p.H676Q(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CTTTGCGCCGATGATCACAGA	0.622000													3	31					0	0	0.004672	0	0
KDELR1	10945	broad.mit.edu	37	19	48892941	48892941	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:48892941T>C	ENST00000597017.1	-	2	459	c.34A>G	c.(34-36)Acg>Gcg	p.T12A	KDELR1_ENST00000330720.2_Missense_Mutation_p.T74A			P24390	ERD21_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1	74					intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane|membrane fraction	KDEL sequence binding|protein binding|receptor activity	p.T74A(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1)	11		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)		AACCAGACCGTGGTGAAGGAG	0.552000													12	38					0	0	0.002450	0	0
CRLF1	9244	broad.mit.edu	37	19	18709709	18709709	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:18709709G>A	ENST00000392386.3	-	3	593	c.400C>T	c.(400-402)Ccc>Tcc	p.P134S		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	134	Fibronectin type-III 1.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity	p.P134S(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						TTCTCTGGGGGCACTGGGAGA	0.647000													9	77					0	0	0.008291	0	0
FBN2	2201	broad.mit.edu	37	5	127782300	127782300	+	Splice_Site	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:127782300C>G	ENST00000508053.1	-	13	1801		c.e13-1		FBN2_ENST00000508989.1_Splice_Site|FBN2_ENST00000262464.4_Splice_Site			P35556	FBN2_HUMAN	fibrillin 2						bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.?(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCATCAACATCTGCAAGAAGA	0.363000													16	103					0	0	0.012319	0	0
CCDC37	348807	broad.mit.edu	37	3	126152008	126152008	+	Silent	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:126152008C>A	ENST00000393425.1	+	14	1485	c.1386C>A	c.(1384-1386)gcC>gcA	p.A462A	CCDC37_ENST00000505024.1_Silent_p.A462A|CCDC37_ENST00000352312.1_Silent_p.A461A			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	461								p.A461A(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		AGCTCAAAGCCCGAGTCTTCC	0.602000													13	104					0.00185496	0.0020891	0.001855	1	0
OR51F2	119694	broad.mit.edu	37	11	4843137	4843137	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:4843137G>T	ENST00000322110.5	+	1	587	c.522G>T	c.(520-522)atG>atT	p.M174I	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M174I(1)		breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCCAGTCATGCTCTTTGTCA	0.448000													25	203					6.36457e-07	8.84878e-07	0.003954	1	0
PLD2	5338	broad.mit.edu	37	17	4712637	4712637	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:4712637C>G	ENST00000263088.6	+	6	665	c.534C>G	c.(532-534)ttC>ttG	p.F178L	PLD2_ENST00000572940.1_Missense_Mutation_p.F178L	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	178	PX.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	p.F178L(2)		autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	CCATGTCTTTCTATCGCAACT	0.537000													16	75					0	0	0.007413	0	0
SCN1A	6323	broad.mit.edu	37	2	166900551	166900551	+	Silent	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:166900551C>T	ENST00000423058.2	-	11	1688	c.1671G>A	c.(1669-1671)ttG>ttA	p.L557L	SCN1A_ENST00000409050.1_Silent_p.L557L|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Silent_p.L557L|SCN1A_ENST00000303395.4_Silent_p.L557L|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	557						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.L557L(2)		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)	CACGGATGCTCAACAAAGACT	0.393000													5	37					0	0	0.000602	0	0
GPR112	139378	broad.mit.edu	37	X	135455157	135455157	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:135455157G>A	ENST00000394143.1	+	15	8001	c.7710G>A	c.(7708-7710)cgG>cgA	p.R2570R	GPR112_ENST00000287534.4_Silent_p.R2368R|GPR112_ENST00000394141.1_Silent_p.R2365R|GPR112_ENST00000370652.1_Silent_p.R2570R|GPR112_ENST00000412101.1_Silent_p.R2365R	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2570					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R2570R(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTGTGCTGCGGGGGGACCACA	0.537000													48	321					0	0	0.014410	0	0
S1PR5	53637	broad.mit.edu	37	19	10625652	10625652	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:10625652G>A	ENST00000439028.3	-	2	161	c.36C>T	c.(34-36)agC>agT	p.S12S	S1PR5_ENST00000333430.4_Silent_p.S12S	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	12						integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity	p.S12S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12						CGATGACCTCGCTCACCGGCG	0.716000													5	45					0	0	0.000602	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	RNA	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269000													5	104					0	0	0.000602	0	0
CA1	759	broad.mit.edu	37	8	86249255	86249255	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:86249255G>A	ENST00000523953.1	-	5	1319	c.273C>T	c.(271-273)ctC>ctT	p.L91L	CA1_ENST00000256119.5_Silent_p.L91L|CA1_ENST00000518341.1_5'UTR|CA1_ENST00000523022.1_Silent_p.L91L|CA1_ENST00000432364.2_Silent_p.L91L|CA1_ENST00000431316.1_Silent_p.L91L|CA1_ENST00000522389.1_Intron|CA1_ENST00000542576.1_Silent_p.L91L			P00915	CAH1_HUMAN	carbonic anhydrase I	91					one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding	p.L91L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	GGAACTGAAAGAGCCTGTAGC	0.428000													5	68					0	0	0.000602	0	0
NAA16	79612	broad.mit.edu	37	13	41933097	41933097	+	Splice_Site	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr13:41933097G>T	ENST00000379406.3	+	12	1733	c.1410_splice	c.e12+1	p.R470_splice	NAA16_ENST00000379367.3_Splice_Site_p.R470_splice	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	470					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding	p.R470M(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						AAGTTCACAAGGGTAGGAAAT	0.358000													19	61					5.26018e-13	8.43648e-13	0.012319	1	0
STK17B	9262	broad.mit.edu	37	2	197008376	197008376	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:197008376A>T	ENST00000263955.4	-	5	801	c.515T>A	c.(514-516)cTc>cAc	p.L172H	STK17B_ENST00000409228.1_Missense_Mutation_p.L172H	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	172	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	p.L172H(1)		breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			AATGTCCCCGAGAGGGTATAT	0.353000													12	101					0	0	0.013537	0	0
BICC1	80114	broad.mit.edu	37	10	60549174	60549174	+	Silent	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr10:60549174T>A	ENST00000373886.3	+	7	757	c.753T>A	c.(751-753)acT>acA	p.T251T		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	251					multicellular organismal development		RNA binding	p.T251T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						ATGGTGCTACTGTCATAGTAC	0.373000													26	87					0	0	0.007291	0	0
OR2AG1	144125	broad.mit.edu	37	11	6807219	6807219	+	Nonstop_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:6807219G>T	ENST00000307401.4	+	1	972	c.951G>T	c.(949-951)taG>taT	p.*317Y		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.*317fs?(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCACGCTCTAGGGAAGGATCA	0.468000													7	33					0.00307968	0.00340991	0.003080	1	0
NLGN1	22871	broad.mit.edu	37	3	173998675	173998675	+	Nonsense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:173998675C>G	ENST00000457714.1	+	7	2483	c.2054C>G	c.(2053-2055)tCa>tGa	p.S685*	NLGN1_ENST00000545397.1_Nonsense_Mutation_p.S685*|NLGN1_ENST00000361589.4_Nonsense_Mutation_p.S685*|NLGN1_ENST00000401917.3_Nonsense_Mutation_p.S725*	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	702					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	p.S685*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GTTGGAGCATCACTGCTGTTT	0.473000													12	60					0	0	0.013537	0	0
TFCP2L1	29842	broad.mit.edu	37	2	121995289	121995289	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:121995289G>T	ENST00000263707.5	-	10	1010	c.913C>A	c.(913-915)Ctg>Atg	p.L305M		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	305					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.L305M(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					GATGGGAGCAGGTGCTGTGAG	0.607000													4	60					0.00024832	0.000292572	0.009096	1	0
HEPH	9843	broad.mit.edu	37	X	65480010	65480010	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:65480010G>A	ENST00000519389.1	+	19	3446	c.3267G>A	c.(3265-3267)gtG>gtA	p.V1089V	HEPH_ENST00000343002.2_Silent_p.V1035V|HEPH_ENST00000374727.3_Silent_p.V1038V|HEPH_ENST00000419594.1_Silent_p.V846V|HEPH_ENST00000441993.2_Silent_p.V1038V|HEPH_ENST00000336279.5_Silent_p.V768V			Q9BQS7	HEPH_HUMAN	hephaestin	1035					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.V1035V(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TGGAGATGGTGGCCAGCAACC	0.527000													12	44					0	0	0.013537	0	0
AOAH	313	broad.mit.edu	37	7	36763639	36763639	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:36763639G>T	ENST00000431169.1	-	1	415	c.115C>A	c.(115-117)Cac>Aac	p.H39N	AOAH_ENST00000535891.1_Missense_Mutation_p.H39N|AOAH_ENST00000258749.5_Missense_Mutation_p.H39N	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	39	Saposin B-type.				inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	p.H39N(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						ACACAGGTGTGCCCATTCGAG	0.438000													5	32					1.23904e-05	1.59927e-05	0.000602	1	0
IGF2R	3482	broad.mit.edu	37	6	160505029	160505029	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:160505029G>A	ENST00000356956.1	+	40	6029	c.5881G>A	c.(5881-5883)Gag>Aag	p.E1961K		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1961					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	p.E1961K(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TGATGAAGATGAGGACATTGG	0.468000													8	80					0	0	0.006214	0	0
CHST1	8534	broad.mit.edu	37	11	45671248	45671248	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:45671248G>T	ENST00000308064.2	-	4	1896	c.1226C>A	c.(1225-1227)cCc>cAc	p.P409H		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	409					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	p.P409H(1)		breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		TCACGAGAAGGGGCGGAAGTC	0.627000													6	73					3.59834e-05	4.52376e-05	0.001168	1	0
CXCR5	643	broad.mit.edu	37	11	118764836	118764836	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:118764836C>T	ENST00000292174.4	+	2	759	c.583C>T	c.(583-585)Cac>Tac	p.H195Y	BCL9L_ENST00000334801.3_3'UTR	NM_001716.4|NM_032966.2	NP_001707.1|NP_116743.1	P32302	CXCR5_HUMAN	chemokine (C-X-C motif) receptor 5	195					B cell activation|cellular component movement	integral to plasma membrane	C-X-C chemokine receptor activity	p.H195Y(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		CCAAGGCCATCACAACAACTC	0.572000													4	34					0	0	0.009096	0	0
SMARCD1	6602	broad.mit.edu	37	12	50492589	50492589	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:50492589C>G	ENST00000394963.4	+	12	1883	c.1485C>G	c.(1483-1485)ttC>ttG	p.F495L	SMARCD1_ENST00000548573.1_Missense_Mutation_p.F293L|SMARCD1_ENST00000381513.4_Missense_Mutation_p.F454L	NM_003076.4	NP_003067.3	Q96GM5	SMRD1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1	495	Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo.				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity	p.F456L(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						GCCGATACTTCTACTCCAAGG	0.552000													4	39					0	0	0.009096	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130218994	130218994	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:130218994C>A	ENST00000276211.5	+	7	1256	c.911C>A	c.(910-912)tCt>tAt	p.S304Y	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.S168Y|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.S292Y	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	304	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.S304Y(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						ATGAAGGATTCTCTGCTGCCA	0.463000													12	116					7.03913e-09	1.03009e-08	0.013537	1	0
PTPN11	5781	broad.mit.edu	37	12	112891116	112891116	+	Silent	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:112891116T>C	ENST00000351677.2	+	4	648	c.450T>C	c.(448-450)tcT>tcC	p.S150S	PTPN11_ENST00000392597.1_Silent_p.S150S	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	150	SH2 2.				axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.S150S(1)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						TTGTTCTTTCTGTGCGCACTG	0.433000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome				21	154					0	0	0.014323	0	0
CACNA1E	777	broad.mit.edu	37	1	181726077	181726077	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:181726077G>T	ENST00000526775.1	+	29	4252	c.4087G>T	c.(4087-4089)Gta>Tta	p.V1363L	CACNA1E_ENST00000367573.2_Missense_Mutation_p.V1382L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1363L|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V1314L|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V989L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V1382L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V1333L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1382					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.V1382L(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GCAGCACTCTGTAGATGTGAC	0.463000													11	91					2.80697e-09	4.17413e-09	0.010729	1	0
TEX15	56154	broad.mit.edu	37	8	30694318	30694318	+	Splice_Site	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:30694318C>A	ENST00000256246.2	-	3	8407		c.e3+1			NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15									p.?(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GTGAAACTCACCATAAACCCA	0.373000													8	71					5.4927e-09	8.08941e-09	0.004482	1	0
FAM47C	442444	broad.mit.edu	37	X	37029546	37029546	+	Silent	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:37029546T>A	ENST00000358047.3	+	1	3115	c.3063T>A	c.(3061-3063)gtT>gtA	p.V1021V		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	1021								p.V1021V(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CAATGCAAGTTTACAAGTACA	0.398000													27	137					0	0	0.013726	0	0
ZNF454	285676	broad.mit.edu	37	5	178392158	178392158	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:178392158G>T	ENST00000320129.3	+	5	1056	c.753G>T	c.(751-753)aaG>aaT	p.K251N	ZNF454_ENST00000519564.1_Missense_Mutation_p.K251N	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K251N(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		AATGTGGCAAGGCCTTCTCAG	0.428000													13	91					0.000151284	0.000181502	0.001855	1	0
RRP12	23223	broad.mit.edu	37	10	99126286	99126286	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr10:99126286T>C	ENST00000370992.4	-	28	3419	c.3308A>G	c.(3307-3309)cAg>cGg	p.Q1103R	RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000315563.6_Missense_Mutation_p.Q1003R|RRP12_ENST00000414986.1_Missense_Mutation_p.Q1042R|RRP12_ENST00000536831.1_Missense_Mutation_p.Q821R	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1103						integral to membrane|nuclear membrane|nucleolus	protein binding	p.Q1103R(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CCGGCTCCTCTGTCGTGCCAG	0.602000													28	88					0	0	0.007291	0	0
SPEG	10290	broad.mit.edu	37	2	220338272	220338272	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:220338272C>G	ENST00000312358.7	+	17	4326	c.4194C>G	c.(4192-4194)atC>atG	p.I1398M	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1398	Ig-like 7.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.I1398I(1)|p.I1398M(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AACCAGACATCGTGTATGTGG	0.627000													22	159					0	0	0.003330	0	0
DDO	8528	broad.mit.edu	37	6	110714395	110714395	+	Silent	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:110714395G>C	ENST00000368924.3	-	5	708	c.693C>G	c.(691-693)gtC>gtG	p.V231V	DDO_ENST00000368923.3_Silent_p.V172V|DDO_ENST00000368925.1_Silent_p.V203V	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	203					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity	p.V231V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		GAACTTGGAGGACTTGGCCCC	0.502000													16	145					0	0	0.004990	0	0
CENPN	55839	broad.mit.edu	37	16	81053854	81053854	+	Silent	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:81053854G>C	ENST00000305850.5	+	6	1294	c.504G>C	c.(502-504)ctG>ctC	p.L168L	CENPN_ENST00000299572.5_Silent_p.L168L|CENPN_ENST00000439957.3_Silent_p.L148L|CENPN_ENST00000393335.3_Silent_p.L168L|CENPN_ENST00000428963.2_Silent_p.L168L|RP11-303E16.3_ENST00000562315.1_RNA|CMC2_ENST00000565914.1_5'UTR	NM_001100624.2|NM_001270474.1	NP_001094094.2|NP_001257403.1	Q96H22	CENPN_HUMAN	centromere protein N	168					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm		p.L168L(3)|p.L148L(1)		breast(1)|large_intestine(5)|lung(4)	10						CCTCCATGCTGAGGCGCAATA	0.428000													3	30					0	0	0.009096	0	0
CDH6	1004	broad.mit.edu	37	5	31294201	31294201	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:31294201A>G	ENST00000265071.2	+	3	626	c.361A>G	c.(361-363)Aaa>Gaa	p.K121E	CDH6_ENST00000514738.1_Missense_Mutation_p.K66E	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	121	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.K121E(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CAGGGAAGAAAAACCCGTTTA	0.448000													24	106					0	0	0.014323	0	0
KRTAP5-9	3846	broad.mit.edu	37	11	71259944	71259944	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:71259944A>T	ENST00000528743.2	+	1	479	c.241A>T	c.(241-243)Agt>Tgt	p.S81C		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	81	8 X 4 AA repeats of C-C-X-P.				epidermis development	keratin filament		p.S81C(1)		kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						CTCCCAGTGCAGTTGCTGCAA	0.622000													17	127					0	0	0.007413	0	0
LRRC37B	114659	broad.mit.edu	37	17	30348281	30348281	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:30348281C>G	ENST00000327564.7	+	1	258	c.197C>G	c.(196-198)tCt>tGt	p.S66C	LRRC37B_ENST00000543378.2_Intron|LRRC37B_ENST00000584368.1_Missense_Mutation_p.S51C|LRRC37B_ENST00000341671.7_Missense_Mutation_p.S39C|LRRC37B_ENST00000394713.3_Missense_Mutation_p.S39C			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	39						integral to membrane		p.S39C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				CAGCTGACCTCTAACCCCCTG	0.627000													23	75					0	0	0.004656	0	0
ADCK4	79934	broad.mit.edu	37	19	41211335	41211335	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:41211335C>G	ENST00000324464.3	-	6	686	c.385G>C	c.(385-387)Gac>Cac	p.D129H	ADCK4_ENST00000243583.6_Intron|ADCK4_ENST00000450541.1_Intron	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	129						integral to membrane	protein serine/threonine kinase activity	p.D129H(2)		NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			GGGCTGGAGTCCAGCCCAGAA	0.582000													7	48					0	0	0.001984	0	0
CDH9	1007	broad.mit.edu	37	5	26906161	26906161	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:26906161C>T	ENST00000231021.4	-	5	890	c.718G>A	c.(718-720)Gac>Aac	p.D240N		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	240	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D240N(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CCACCCATGTCTTTGGCCTGT	0.448000													16	121					0	0	0.003163	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529338	5529338	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:5529338C>T	ENST00000311659.4	-	2	1598	c.1451G>A	c.(1450-1452)aGa>aAa	p.R484K	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	484										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTCAGAGATCTTGGATAAGC	0.552000													7	66					0	0	0.004482	0	0
NAALADL1	10004	broad.mit.edu	37	11	64821818	64821818	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:64821818T>A	ENST00000358658.3	-	6	923	c.896A>T	c.(895-897)aAc>aTc	p.N299I	NAALADL1_ENST00000339885.2_Missense_Mutation_p.N299I|NAALADL1_ENST00000355369.2_Missense_Mutation_p.N299I|NAALADL1_ENST00000340252.4_Missense_Mutation_p.N299I|NAALADL1_ENST00000355721.3_Missense_Mutation_p.N258I|NAALADL1_ENST00000356632.3_Intron	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	299	NAALADase.				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	p.N299I(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						CAAAGTTCCGTTGAGGTTACT	0.637000													5	49					0	0	0.000602	0	0
USPL1	10208	broad.mit.edu	37	13	31232508	31232508	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr13:31232508G>T	ENST00000255304.4	+	9	2636	c.2294G>T	c.(2293-2295)aGc>aTc	p.S765I		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	765					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	p.S765I(1)		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)		GGCTTAATAAGCAGGGGTGCT	0.378000													43	133					1.41504e-22	2.43069e-22	0.011902	1	0
RBL2	5934	broad.mit.edu	37	16	53487410	53487410	+	Silent	SNP	C	C	T	rs140105334		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:53487410C>T	ENST00000262133.6	+	6	950	c.813C>T	c.(811-813)gaC>gaT	p.D271D	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Silent_p.D55D	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	271					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	p.D271D(1)		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						CTTCCTCTGACCCCCCTTGTA	0.383000													21	186					0	0	0.012319	0	0
BRINP3	339479	broad.mit.edu	37	1	190195291	190195291	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:190195291C>A	ENST00000367462.3	-	6	1113	c.882G>T	c.(880-882)atG>atT	p.M294I	FAM5C_ENST00000534846.1_Missense_Mutation_p.M192I|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		294						extracellular region		p.M294I(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					CTTGAATGTCCATGGAGGGGC	0.418000													5	34					8.12818e-05	9.85462e-05	0.001984	1	0
MYH8	4626	broad.mit.edu	37	17	10304093	10304093	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:10304093G>A	ENST00000403437.2	-	27	3443	c.3349C>T	c.(3349-3351)Cgc>Tgc	p.R1117C	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1117					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.R1117C(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCCTCAATGCGGGCCTGGGAA	0.512000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				13	39					0	0	0.001855	0	0
GLI3	2737	broad.mit.edu	37	7	42085017	42085017	+	Silent	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:42085017C>A	ENST00000395925.3	-	6	876	c.792G>T	c.(790-792)ggG>ggT	p.G264G	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	264					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G264G(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TGTGGATGGCCCCCGTGCCGG	0.522000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				18	163					1.01871e-10	1.56555e-10	0.008871	1	0
OR5D14	219436	broad.mit.edu	37	11	55563206	55563206	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:55563206A>T	ENST00000335605.1	+	1	175	c.175A>T	c.(175-177)Act>Tct	p.T59S		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T59S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				CAAATTTCACACTCCTATGTA	0.383000													20	110					0	0	0.008871	0	0
PRRT1	80863	broad.mit.edu	37	6	32117104	32117104	+	Silent	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:32117104G>T	ENST00000211413.5	-	4	940	c.816C>A	c.(814-816)tcC>tcA	p.S272S	PRRT1_ENST00000375150.2_Silent_p.S191S|PRRT1_ENST00000467780.1_5'UTR|PRRT1_ENST00000375152.2_Silent_p.S191S	NM_030651.3	NP_085154.3	Q99946	PRRT1_HUMAN	proline-rich transmembrane protein 1	272					response to biotic stimulus	integral to membrane		p.S272S(1)		breast(2)|endometrium(1)|kidney(1)|lung(2)	6						GGGAGATGAAGGAGAAGTTCC	0.647000													8	13					2.17888e-05	2.77724e-05	0.006214	1	0
NLRP13	126204	broad.mit.edu	37	19	56424211	56424211	+	Silent	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:56424211C>T	ENST00000588751.1	-	5	996	c.972G>A	c.(970-972)gaG>gaA	p.E324E	NLRP13_ENST00000342929.3_Silent_p.E324E			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	324	NACHT.						ATP binding	p.E324E(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CATCCAAGCTCTCAGAGCGTG	0.453000													14	74					0	0	0.001855	0	0
LZTS2	84445	broad.mit.edu	37	10	102763281	102763281	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr10:102763281G>A	ENST00000370220.1	+	2	3489	c.426G>A	c.(424-426)ctG>ctA	p.L142L	LZTS2_ENST00000370223.3_Silent_p.L142L			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	142	Required for centrosomal localization (By similarity).				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center		p.L142L(1)|p.L5L(1)		breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		AGAAGATCCTGATCCGCCCAA	0.602000													30	79					0	0	0.010818	0	0
FAT4	79633	broad.mit.edu	37	4	126373662	126373662	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:126373662G>T	ENST00000394329.3	+	9	11504	c.11491G>T	c.(11491-11493)Gag>Tag	p.E3831*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.E2129*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3831	EGF-like 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E3831*(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAAAAGCCGTGAGAGTCTTCC	0.488000													6	42					2.0095e-06	2.72379e-06	0.001984	1	0
ROBO2	6092	broad.mit.edu	37	3	77147352	77147352	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:77147352G>T	ENST00000461745.1	+	2	1149	c.249G>T	c.(247-249)atG>atT	p.M83I	ROBO2_ENST00000332191.8_Missense_Mutation_p.M83I|ROBO2_ENST00000487694.3_Missense_Mutation_p.M99I	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	83	Ig-like C2-type 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.M99I(1)|p.M83I(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCCACAGGATGCTTCTGCCCA	0.567000													13	40					1.52009e-12	2.40856e-12	0.003163	1	0
ITGA4	3676	broad.mit.edu	37	2	182339987	182339987	+	Silent	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:182339987G>T	ENST00000397033.2	+	4	958	c.528G>T	c.(526-528)ctG>ctT	p.L176L	ITGA4_ENST00000478440.1_Intron|ITGA4_ENST00000339307.4_Silent_p.L176L	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	176					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	p.L176L(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GAACAGAACTGAGTAAAAGAA	0.343000													15	91					1.15088e-07	1.62466e-07	0.004007	1	0
CEP170	9859	broad.mit.edu	37	1	243327605	243327605	+	Silent	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:243327605T>C	ENST00000366542.1	-	13	3708	c.3657A>G	c.(3655-3657)tcA>tcG	p.S1219S	CEP170_ENST00000366544.1_Silent_p.S1121S|CEP170_ENST00000366543.1_Silent_p.S1121S	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1219	Targeting to centrosomes.|Targeting to microtubules.					centriole|microtubule|spindle		p.S1219S(1)		NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			AGCCATGAGCTGAGGTCATAC	0.378000													3	53					0	0	0.009096	0	0
ZBBX	79740	broad.mit.edu	37	3	167016162	167016162	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:167016162C>A	ENST00000392766.2	-	18	2150	c.1810G>T	c.(1810-1812)Gaa>Taa	p.E604*	ZBBX_ENST00000307529.5_Nonsense_Mutation_p.E604*|ZBBX_ENST00000392764.1_Nonsense_Mutation_p.E575*|ZBBX_ENST00000392767.2_Nonsense_Mutation_p.E604*|ZBBX_ENST00000455345.2_Nonsense_Mutation_p.E604*	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	604						intracellular	zinc ion binding	p.E604*(2)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TTGAGTCTTTCATTTGTATCA	0.313000													12	43					0.000978159	0.00111807	0.010729	1	0
FAM104A	84923	broad.mit.edu	37	17	71223366	71223366	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:71223366G>T	ENST00000405159.3	-	2	323	c.259C>A	c.(259-261)Ctt>Att	p.L87I	FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000403627.3_Missense_Mutation_p.L87I|FAM104A_ENST00000581110.1_Intron|FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000580032.1_5'UTR	NM_001098832.1	NP_001092302.1	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	87								p.L21I(1)|p.L87I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			TGGGGGGGAAGATGGTTGTCT	0.428000													14	116					2.31682e-05	2.94083e-05	0.003163	1	0
MARCH11	441061	broad.mit.edu	37	5	16067691	16067691	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:16067691C>G	ENST00000332432.8	-	4	1297	c.1098G>C	c.(1096-1098)agG>agC	p.R366S		NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	366						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding	p.R366S(1)		NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						CACACTGAAACCTTGGTGAGG	0.502000													34	124					0	0	0.003755	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72004836	72004836	+	Splice_Site	SNP	A	A	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:72004836A>C	ENST00000378743.3	-	33	6128		c.e33+1			NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing						RNA processing	intracellular	metal ion binding	p.?(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ACCATGGCTTACCTCTCTTTG	0.294000													15	133					0	0	0.010504	0	0
DST	667	broad.mit.edu	37	6	56492813	56492813	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:56492813T>A	ENST00000370754.5	-	32	4522	c.4523A>T	c.(4522-4524)cAg>cTg	p.Q1508L	DST_ENST00000361203.3_Missense_Mutation_p.Q1330L|DST_ENST00000421834.2_Missense_Mutation_p.Q1330L|DST_ENST00000370788.2_Missense_Mutation_p.Q1330L|DST_ENST00000244364.6_Missense_Mutation_p.Q1004L|DST_ENST00000446842.2_Missense_Mutation_p.Q1004L|DST_ENST00000312431.6_Missense_Mutation_p.Q1330L|DST_ENST00000370765.6_Missense_Mutation_p.Q1004L|DST_ENST00000370769.4_Missense_Mutation_p.Q1330L|DST_ENST00000518935.1_Missense_Mutation_p.Q1004L			Q03001	DYST_HUMAN	dystonin	1330					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.Q1004L(3)|p.Q1330L(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTGATTCAACTGTGTGGCTAG	0.388000													16	81					0	0	0.006122	0	0
CHD8	57680	broad.mit.edu	37	14	21897346	21897346	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:21897346T>A	ENST00000399982.2	-	2	1056	c.992A>T	c.(991-993)cAa>cTa	p.Q331L	CHD8_ENST00000430710.3_Missense_Mutation_p.Q52L|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000557364.1_Missense_Mutation_p.Q331L	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	331	Gln-rich.				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	p.Q331L(1)		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)		AGGCTGCCCTTGGGCATTCTT	0.557000													5	46					0	0	0.000602	0	0
ADPRHL2	54936	broad.mit.edu	37	1	36558117	36558117	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:36558117G>C	ENST00000373178.4	+	5	826	c.796G>C	c.(796-798)Gag>Cag	p.E266Q		NM_017825.2	NP_060295.1	Q9NX46	ARHL2_HUMAN	ADP-ribosylhydrolase like 2	266						cytoplasm|nucleus	metal ion binding|poly(ADP-ribose) glycohydrolase activity	p.E266Q(1)		cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8		Myeloproliferative disorder(586;0.0393)				AGTGGTGTCTGAGCTAGGTGA	0.597000													3	37					0	0	0.000602	0	0
SNHG14	104472715	broad.mit.edu	37	15	25463836	25463836	+	RNA	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr15:25463836G>C	ENST00000424208.1	+	0	2994				SNHG14_ENST00000365067.1_RNA|SNHG14_ENST00000453082.2_RNA	NR_003305.1																						ATAGGATTACGCTGAGGCCCA	0.532000													18	228					0	0	0.006122	0	0
SYNE1	23345	broad.mit.edu	37	6	152746527	152746527	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:152746527G>C	ENST00000367255.5	-	39	5857	c.5256C>G	c.(5254-5256)atC>atG	p.I1752M	SYNE1_ENST00000423061.1_Missense_Mutation_p.I1759M|SYNE1_ENST00000448038.1_Missense_Mutation_p.I1759M|SYNE1_ENST00000265368.4_Missense_Mutation_p.I1752M|SYNE1_ENST00000341594.5_Missense_Mutation_p.I1789M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1752					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	p.I1752M(2)|p.I1759M(1)		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)		TTTTGTTAATGATCTGTGGTA	0.308000										HNSCC(10;0.0054)			15	105					0	0	0.008871	0	0
PDE8B	8622	broad.mit.edu	37	5	76709008	76709008	+	Silent	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:76709008C>T	ENST00000264917.5	+	17	1830	c.1785C>T	c.(1783-1785)acC>acT	p.T595T	PDE8B_ENST00000333194.4_Silent_p.T540T|PDE8B_ENST00000342343.4_Silent_p.T575T|PDE8B_ENST00000505283.1_Silent_p.T60T|PDE8B_ENST00000340978.3_Silent_p.T548T|PDE8B_ENST00000346042.3_Silent_p.T498T	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	595	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	p.T595T(1)	GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		GTTCTGAAACCACTCTTCGGG	0.498000													13	150					0	0	0.001855	0	0
SP4	6671	broad.mit.edu	37	7	21516717	21516717	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:21516717G>C	ENST00000222584.3	+	4	1917	c.1699G>C	c.(1699-1701)Gga>Cga	p.G567R		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	567					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	p.G567R(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						AGGACAAGATGGAGTAAAAGT	0.378000													8	41					0	0	0.003080	0	0
CCDC73	493860	broad.mit.edu	37	11	32674742	32674742	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:32674742T>A	ENST00000335185.5	-	12	909	c.866A>T	c.(865-867)cAg>cTg	p.Q289L	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	289								p.Q289L(1)		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)					CCGAAGTAACTGCTGCATATG	0.318000													6	67					0	0	0.004482	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76569461	76569461	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:76569461G>T	ENST00000307431.8	+	19	3157	c.2772G>T	c.(2770-2772)caG>caT	p.Q924H	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.Q852H|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.Q876H|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.Q928H|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	925	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.Q924H(1)|p.Q852H(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CCACCAGACAGAGAGGCTTTC	0.478000													8	48					0.000274275	0.000319872	0.004482	1	0
OR8S1	341568	broad.mit.edu	37	12	48919816	48919816	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:48919816G>T	ENST00000310194.1	+	1	402	c.402G>T	c.(400-402)caG>caT	p.Q134H	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q134H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						TTTATGGACAGATCATGGGTA	0.522000													18	69					1.01871e-10	1.56555e-10	0.008871	1	0
GNGT1	2792	broad.mit.edu	37	7	93536065	93536065	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:93536065G>T	ENST00000455502.1	+	3	261	c.7G>T	c.(7-9)Gta>Tta	p.V3L	GNGT1_ENST00000248572.5_Missense_Mutation_p.V3L|GNGT1_ENST00000428834.1_Missense_Mutation_p.V3L|GNGT1_ENST00000430875.1_Missense_Mutation_p.V3L|GNGT1_ENST00000429473.1_Missense_Mutation_p.V3L			P63211	GBG1_HUMAN	guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1	3					G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|signal transducer activity	p.V3L(1)		endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	6	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			AAAGATGCCAGTAATCAATAT	0.413000													15	75					2.35188e-11	3.65716e-11	0.006122	1	0
CAND2	23066	broad.mit.edu	37	3	12858893	12858893	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:12858893G>A	ENST00000456430.2	+	10	2503	c.2462G>A	c.(2461-2463)aGc>aAc	p.S821N	CAND2_ENST00000295989.5_Missense_Mutation_p.S728N	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	821					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S821N(1)|p.S728N(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GAGGCGGCAAGCACAGCCAGT	0.657000													5	60					0	0	0.000602	0	0
ATP2B2	491	broad.mit.edu	37	3	10370725	10370725	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:10370725C>T	ENST00000397077.1	-	22	3945	c.3370G>A	c.(3370-3372)Gct>Act	p.A1124T	ATP2B2_ENST00000467702.2_5'UTR|ATP2B2_ENST00000383800.4_Missense_Mutation_p.A1124T|ATP2B2_ENST00000360273.2_Missense_Mutation_p.A1169T|ATP2B2_ENST00000352432.4_Missense_Mutation_p.A1169T|ATP2B2_ENST00000343816.4_Missense_Mutation_p.A1155T			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	1169	Calmodulin-binding subdomain A (By similarity).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	p.A1124T(1)|p.A1169T(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TCAGGATGAGCCATGAAGTTA	0.532000													11	66					0	0	0.008291	0	0
ZBTB17	7709	broad.mit.edu	37	1	16268907	16268907	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:16268907C>T	ENST00000375733.2	-	15	2306	c.2068G>A	c.(2068-2070)Gtg>Atg	p.V690M	ZBTB17_ENST00000537142.1_Missense_Mutation_p.V601M|ZBTB17_ENST00000375743.4_Missense_Mutation_p.V683M			Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	683	Interaction with HCFC1.|Interaction with MYC.				negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V683M(1)		breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGCTCCCACCGGCACCACT	0.642000													4	29					0	0	0.009096	0	0
PEX5L	51555	broad.mit.edu	37	3	179605481	179605481	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:179605481G>T	ENST00000467460.1	-	4	620	c.290C>A	c.(289-291)cCa>cAa	p.P97Q	PEX5L_ENST00000263962.8_Missense_Mutation_p.P95Q|PEX5L_ENST00000392649.3_Missense_Mutation_p.P54Q|PEX5L_ENST00000472994.1_Missense_Mutation_p.P38Q|PEX5L_ENST00000468741.1_5'UTR|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.P73Q|PEX5L_ENST00000464614.1_Missense_Mutation_p.P54Q|PEX5L_ENST00000485199.1_Missense_Mutation_p.P62Q|PEX5L_ENST00000476138.1_Missense_Mutation_p.P54Q	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	97					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	p.P97Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			GGATGTTACTGGCCTTGCTAT	0.393000													32	181					7.16026e-08	1.01862e-07	0.012213	1	0
ZP4	57829	broad.mit.edu	37	1	238053401	238053401	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:238053401G>C	ENST00000366570.4	-	2	409	c.251C>G	c.(250-252)tCc>tGc	p.S84C	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	84					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	p.S84C(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CAACACCACGGAGCTGCCTGG	0.567000													13	87					0	0	0.001855	0	0
DGKB	1607	broad.mit.edu	37	7	14775748	14775748	+	Silent	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:14775748A>T	ENST00000403951.2	-	5	659	c.240T>A	c.(238-240)acT>acA	p.T80T	DGKB_ENST00000402815.1_Silent_p.T80T|DGKB_ENST00000407950.1_Silent_p.T73T|DGKB_ENST00000406247.3_Silent_p.T80T|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Silent_p.T80T|DGKB_ENST00000258767.5_Silent_p.T80T|DGKB_ENST00000444700.2_Silent_p.T73T			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	80					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|protein binding	p.T80T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	AAAGGTGTGCAGTGAAATCAT	0.358000													4	20					0	0	0.009096	0	0
TACC2	10579	broad.mit.edu	37	10	123845089	123845089	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr10:123845089C>T	ENST00000369005.1	+	4	3414	c.3074C>T	c.(3073-3075)tCc>tTc	p.S1025F	TACC2_ENST00000515603.1_Missense_Mutation_p.S1025F|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.S1025F|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.S1025F|TACC2_ENST00000453444.2_Missense_Mutation_p.S1025F	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1025						microtubule organizing center|nucleus	nuclear hormone receptor binding	p.S1025F(1)		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)				GATGGTTGTTCCCCACTCTGG	0.547000													7	24					0	0	0.003080	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76350405	76350405	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:76350405C>A	ENST00000307431.8	+	3	563	c.178C>A	c.(178-180)Ctg>Atg	p.L60M	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.L36M|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.L60M|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.L64M|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	61	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.L36M(2)|p.L60M(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ATTTGCAAGGCTGAATAGAAG	0.448000													8	28					0.00448238	0.00492152	0.004482	1	0
PAMR1	25891	broad.mit.edu	37	11	35463205	35463205	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:35463205G>T	ENST00000378880.2	-	7	1302	c.857C>A	c.(856-858)cCa>cAa	p.P286Q	PAMR1_ENST00000532848.1_Missense_Mutation_p.P246Q|PAMR1_ENST00000378878.3_Missense_Mutation_p.P175Q|PAMR1_ENST00000278360.3_Missense_Mutation_p.P303Q	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	286	Sushi 1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.P303Q(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CCCATTGACTGGGCCCCCAGG	0.418000													24	64					3.01185e-09	4.47155e-09	0.003954	1	0
CLEC4D	338339	broad.mit.edu	37	12	8672847	8672847	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:8672847G>A	ENST00000299665.2	+	5	603	c.410G>A	c.(409-411)aGa>aAa	p.R137K		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	137	C-type lectin.				innate immune response	integral to membrane	sugar binding	p.R137K(1)		large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					TTTCTGGATAGACGGCTTTCC	0.383000													8	75					0	0	0.003080	0	0
SPESP1	246777	broad.mit.edu	37	15	69238346	69238346	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr15:69238346C>A	ENST00000310673.3	+	2	627	c.473C>A	c.(472-474)gCa>gAa	p.A158E	NOX5_ENST00000260364.5_Intron|SPESP1_ENST00000560188.1_3'UTR|NOX5_ENST00000448182.3_Intron|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000455873.3_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	158					multicellular organismal development	acrosomal vesicle		p.A158E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						CAAACTGAGGCACCAAGAATG	0.433000													7	80					8.12818e-05	9.85462e-05	0.001984	1	0
BMPR2	659	broad.mit.edu	37	2	203332383	203332383	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:203332383A>G	ENST00000374580.4	+	3	928	c.389A>G	c.(388-390)aAt>aGt	p.N130S	BMPR2_ENST00000374574.2_Missense_Mutation_p.N130S|BMPR2_ENST00000479069.1_3'UTR	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	130					anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity	p.N130S(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						TTTACTGAGAATTTTCCACCT	0.348000													17	86					0	0	0.006122	0	0
KRTAP6-1	337966	broad.mit.edu	37	21	31986066	31986066	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr21:31986066G>C	ENST00000329122.2	-	1	183	c.158C>G	c.(157-159)tCc>tGc	p.S53C		NM_181602.1	NP_853633.1	Q3LI64	KRA61_HUMAN	keratin associated protein 6-1	53						cytosol|intermediate filament		p.S53C(1)		breast(2)|endometrium(1)|lung(7)	10						GAGGGAGCGGGAGCCATAGCC	0.582000													11	120					0	0	0.010729	0	0
MUC16	94025	broad.mit.edu	37	19	8997118	8997118	+	Splice_Site	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:8997118C>A	ENST00000397910.4	-	60	41281	c.41078_splice	c.e60+1	p.R13693_splice	MUC16_ENST00000380951.5_Splice_Site_p.R334_splice	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13695	SEA 11.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.?(2)		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						AAGGTCTCACCTGAGCAAAGT	0.517000													9	54					3.07112e-06	4.12625e-06	0.010729	1	0
ADCY5	111	broad.mit.edu	37	3	123049786	123049786	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:123049786G>T	ENST00000462833.1	-	5	2808	c.1596C>A	c.(1594-1596)gaC>gaA	p.D532E	ADCY5_ENST00000491190.1_Missense_Mutation_p.D165E|ADCY5_ENST00000309879.5_Missense_Mutation_p.D182E	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	532	Guanylate cyclase 1.				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	p.D532E(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		AGTGGGCGTGGTCAGCCCTTG	0.532000													5	45					5.9392e-07	8.26989e-07	0.001168	1	0
TNKS1BP1	85456	broad.mit.edu	37	11	57076892	57076892	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:57076892C>T	ENST00000532437.1	-	5	3604	c.3293G>A	c.(3292-3294)cGa>cAa	p.R1098Q	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.R1098Q			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1098	Acidic.|Gly-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	p.R1098Q(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TGCTGCCTCTCGCTGGGGGCC	0.612000													11	43					0	0	0.008291	0	0
TG	7038	broad.mit.edu	37	8	134145810	134145810	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:134145810G>C	ENST00000220616.4	+	47	8134	c.8094G>C	c.(8092-8094)aaG>aaC	p.K2698N	TG_ENST00000519543.1_Missense_Mutation_p.K831N|TG_ENST00000377869.1_Missense_Mutation_p.K2641N|TG_ENST00000542445.1_Missense_Mutation_p.K1068N	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2698					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.K2698N(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGAACTACAAGGAGTTCAGTG	0.527000													7	54					0	0	0.003080	0	0
TMEM130	222865	broad.mit.edu	37	7	98446204	98446204	+	Splice_Site	SNP	A	A	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:98446204A>G	ENST00000450876.1	-	7	2183		c.e7+1		TMEM130_ENST00000416379.2_Splice_Site|TMEM130_ENST00000345589.4_Splice_Site|TMEM130_ENST00000339375.4_Splice_Site|TMEM130_ENST00000546258.1_Splice_Site			Q8N3G9	TM130_HUMAN	transmembrane protein 130							Golgi membrane|integral to membrane		p.?(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTGAGTACCCACCTCCACCAT	0.557000													6	89					0	0	0.001168	0	0
TTF1	7270	broad.mit.edu	37	9	135266129	135266129	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr9:135266129C>G	ENST00000334270.2	-	7	2116	c.2077G>C	c.(2077-2079)Gag>Cag	p.E693Q		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	693	Myb-like 2.				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	p.E693Q(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TCTTTTAACTCCTGGGGAGAC	0.413000													33	141					0	0	0.003271	0	0
FLG	2312	broad.mit.edu	37	1	152284173	152284173	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:152284173G>T	ENST00000368799.1	-	3	3224	c.3189C>A	c.(3187-3189)caC>caA	p.H1063Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1063	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.H1063Q(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGACCCCCAGTGTCCACTGT	0.577000									Ichthyosis				50	449					7.77372e-23	1.33784e-22	0.014410	1	0
CADM3	57863	broad.mit.edu	37	1	159169596	159169596	+	Silent	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:159169596C>T	ENST00000368125.4	+	8	1165	c.1008C>T	c.(1006-1008)atC>atT	p.I336I	CADM3_ENST00000368124.4_Silent_p.I370I|CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000497636.1_3'UTR	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	336					adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	p.I370I(3)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TCGGTGGGATCGTGGCTTTCA	0.557000													5	43					0	0	0.000602	0	0
NAF1	92345	broad.mit.edu	37	4	164061457	164061457	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:164061457C>T	ENST00000274054.2	-	5	989	c.796G>A	c.(796-798)Ggt>Agt	p.G266S	NAF1_ENST00000509434.1_5'UTR|NAF1_ENST00000422287.2_Missense_Mutation_p.G266S	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	266					rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	p.G266S(2)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				ATTTTAATACCTTTACTCTCA	0.318000													7	56					0	0	0.003080	0	0
MEGF8	1954	broad.mit.edu	37	19	42861611	42861611	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:42861611G>A	ENST00000334370.4	+	27	5320	c.4685G>A	c.(4684-4686)cGa>cAa	p.R1562Q	MEGF8_ENST00000251268.6_Missense_Mutation_p.R1629Q	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1629						integral to membrane	calcium ion binding|structural molecule activity	p.R1170Q(1)|p.R1629Q(1)|p.R1562Q(1)		breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				ACTGCCCGCCGAGGCCTGTCT	0.652000													11	69					0	0	0.002450	0	0
FGD5	152273	broad.mit.edu	37	3	14862391	14862391	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:14862391G>T	ENST00000285046.5	+	1	1923	c.1813G>T	c.(1813-1815)Ggc>Tgc	p.G605C	FGD5_ENST00000543601.1_Missense_Mutation_p.G364C	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	605					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.G605C(1)|p.G364C(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TCCGTCCAGCGGCACCTCCAC	0.542000													9	55					3.86212e-05	4.81586e-05	0.008291	1	0
HTRA4	203100	broad.mit.edu	37	8	38835503	38835503	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:38835503C>A	ENST00000302495.4	+	4	903	c.803C>A	c.(802-804)tCa>tAa	p.S268*		NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	268	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	p.S268*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			CTGGGAAGATCATCTGACCTT	0.512000													12	99					1.15088e-07	1.62466e-07	0.004007	1	0
GOLGA6B	55889	broad.mit.edu	37	15	72953689	72953689	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr15:72953689C>A	ENST00000421285.3	+	8	649	c.649C>A	c.(649-651)Cag>Aag	p.Q217K		NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	217								p.Q217K(1)		NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						ACACGTGACACAGGTGAGGCT	0.597000													4	102					5.9392e-07	8.26989e-07	0.001168	1	0
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103492148	103492148	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr13:103492148T>A	ENST00000602836.1	+	9	1359	c.1359T>A	c.(1357-1359)gaT>gaA	p.D453E	BIVM_ENST00000419638.1_3'UTR|BIVM_ENST00000257336.1_Missense_Mutation_p.M482K|BIVM_ENST00000448849.2_Missense_Mutation_p.M260K	NM_001204425.1	NP_001191354.1	Q59FZ7	Q59FZ7_HUMAN		0					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding	p.M482K(1)									TGGAAAAAGATGTCTAGTATC	0.453000													20	186					0	0	0.010504	0	0
CHDC2	286464	broad.mit.edu	37	X	36091444	36091444	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:36091444G>T	ENST00000378660.1	+	4	567	c.379G>T	c.(379-381)Gga>Tga	p.G127*	CHDC2_ENST00000313548.4_Nonsense_Mutation_p.G127*					calponin homology domain containing 2									p.G127*(2)|p.G127>?(1)									CTGGCCTGAAGGACCCCATTC	0.388000													17	64					1.00905e-13	1.63547e-13	0.008871	1	0
IGHV1-46	28465	broad.mit.edu	37	14	106967176	106967176	+	RNA	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:106967176C>T	ENST00000390622.2	-	0	527																											GCTTGTGCTACCACCACTAGG	0.547000													26	152					0	0	0.003954	0	0
MEP1A	4224	broad.mit.edu	37	6	46761185	46761185	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:46761185C>T	ENST00000230588.4	+	1	59	c.50C>T	c.(49-51)gCc>gTc	p.A17V		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	17					digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	p.A17V(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TTGCTTTTTGCCCACATAGCA	0.348000													4	108					0	0	0.009096	0	0
OR8D2	283160	broad.mit.edu	37	11	124189498	124189498	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:124189498A>T	ENST00000357438.2	-	1	686	c.596T>A	c.(595-597)cTg>cAg	p.L199Q		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L199Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		AATAATGAACAGCAGAATCTC	0.403000													9	61					0	0	0.004482	0	0
BARD1	580	broad.mit.edu	37	2	215595194	215595194	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:215595194C>A	ENST00000260947.4	-	10	2076	c.1942G>T	c.(1942-1944)Gaa>Taa	p.E648*	BARD1_ENST00000449967.2_Nonsense_Mutation_p.E504*|BARD1_ENST00000432456.1_Nonsense_Mutation_p.E19*	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	648	BRCT 1.				cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.E648*(2)		NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TACTTTTCTTCCTGTTCACAT	0.353000									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				11	65					9.31168e-06	1.23306e-05	0.001855	1	0
MYCBP2	23077	broad.mit.edu	37	13	77786258	77786258	+	Translation_Start_Site	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr13:77786258T>C	ENST00000360084.5	-	0	3073				MYCBP2_ENST00000357337.6_Missense_Mutation_p.Y994C|MYCBP2_ENST00000544440.2_Missense_Mutation_p.Y994C|MYCBP2_ENST00000407578.2_Missense_Mutation_p.Y1032C			O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	p.Y994C(2)|p.Y1032C(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGCATTCCAATATGGCACATC	0.358000													13	52					0	0	0.004990	0	0
QRICH2	84074	broad.mit.edu	37	17	74286109	74286109	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:74286109C>G	ENST00000262765.5	-	5	3443	c.3264G>C	c.(3262-3264)aaG>aaC	p.K1088N		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1088							protein binding	p.K1088N(1)		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						TGGCTAGCGTCTTTACGGTCT	0.443000													30	166					0	0	0.003755	0	0
BPIFC	254240	broad.mit.edu	37	22	32833771	32833771	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr22:32833771C>G	ENST00000397452.1	-	8	833	c.723G>C	c.(721-723)gaG>gaC	p.E241D	BPIFC_ENST00000300399.3_Missense_Mutation_p.E241D|BPIFC_ENST00000432451.2_Missense_Mutation_p.E55D|BPIFC_ENST00000534972.1_5'UTR			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	241						extracellular region	lipopolysaccharide binding|phospholipid binding	p.E241D(1)									CAAGGTAGTTCTCAGTAATTT	0.368000													5	48					0	0	0.000602	0	0
RPS14	6208	broad.mit.edu	37	5	149826406	149826406	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:149826406G>A	ENST00000401695.3	-	3	316	c.270C>T	c.(268-270)atC>atT	p.I90I	RPS14_ENST00000407193.1_Silent_p.I90I|RPS14_ENST00000312037.5_Silent_p.I90I			P62263	RS14_HUMAN	ribosomal protein S14	90					endocrine pancreas development|erythrocyte differentiation|maturation of SSU-rRNA|negative regulation of transcription from RNA polymerase II promoter|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	mRNA 5'-UTR binding|protein binding|structural constituent of ribosome|translation regulator activity	p.I90I(1)		central_nervous_system(1)|lung(1)|skin(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTAGGGCGGTGATACCCAGCT	0.572000													9	78					0	0	0.006214	0	0
MSC	9242	broad.mit.edu	37	8	72754968	72754968	+	Silent	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:72754968C>T	ENST00000325509.4	-	2	838	c.549G>A	c.(547-549)gtG>gtA	p.V183V	RP11-383H13.1_ENST00000521467.1_Intron|MSC_ENST00000518440.1_5'UTR	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	183					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.V183V(1)		endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			TTCCCGAGACCACGAATGGCC	0.473000													39	371					0	0	0.011902	0	0
CLCA2	9635	broad.mit.edu	37	1	86890087	86890087	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:86890087G>C	ENST00000370565.4	+	1	319	c.157G>C	c.(157-159)Gag>Cag	p.E53Q		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	53					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	p.E53Q(1)		NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TCAGGTACCTGAGAATCAGAA	0.408000													3	58					0	0	0.004672	0	0
DOPEY2	9980	broad.mit.edu	37	21	37661499	37661499	+	Silent	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr21:37661499T>C	ENST00000399151.3	+	35	6595	c.6510T>C	c.(6508-6510)ttT>ttC	p.F2170F		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	2170					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		p.F2170F(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TGCCATTATTTCAAATGTAAG	0.383000													17	58					0	0	0.012319	0	0
CCDC132	55610	broad.mit.edu	37	7	92970769	92970769	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:92970769A>T	ENST00000544910.1	+	24	2219	c.1999A>T	c.(1999-2001)Aca>Tca	p.T667S	CCDC132_ENST00000305866.5_Missense_Mutation_p.T697S|CCDC132_ENST00000535481.1_Missense_Mutation_p.T417S|CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000541136.1_Missense_Mutation_p.T508S	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	697								p.T697S(1)		endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TGCCACACTCACAGCAGCAGA	0.423000													8	52					0	0	0.006214	0	0
AP3B1	8546	broad.mit.edu	37	5	77409608	77409608	+	Silent	SNP	T	T	A	rs138293096	by1000genomes	TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:77409608T>A	ENST00000255194.6	-	19	2392	c.2217A>T	c.(2215-2217)acA>acT	p.T739T	AP3B1_ENST00000519295.1_Silent_p.T690T	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	739	Glu/Ser-rich.				endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	p.T739T(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		TCCTCTTGGCTGTTCTTTTGT	0.458000									Hermansky-Pudlak syndrome				8	136					0	0	0.008291	0	0
VAV3	10451	broad.mit.edu	37	1	108185332	108185332	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:108185332G>C	ENST00000370056.4	-	20	2097	c.1823C>G	c.(1822-1824)cCc>cGc	p.P608R	VAV3_ENST00000544443.1_Missense_Mutation_p.P12R|VAV3_ENST00000527011.1_Missense_Mutation_p.P608R|VAV3_ENST00000415432.2_Missense_Mutation_p.P48R|VAV3_ENST00000343258.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	608	SH3 1.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	p.P608R(1)|p.P48R(1)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CAGAGCTGGGGGTGGTGTTCC	0.453000													10	94					0	0	0.013537	0	0
VPS8	23355	broad.mit.edu	37	3	184648287	184648287	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:184648287C>G	ENST00000287546.4	+	33	3000	c.2829C>G	c.(2827-2829)atC>atG	p.I943M	VPS8_ENST00000463687.1_3'UTR|VPS8_ENST00000446204.2_Missense_Mutation_p.I851M|VPS8_ENST00000436792.2_Missense_Mutation_p.I941M|VPS8_ENST00000437079.3_Missense_Mutation_p.I943M	NM_015303.3	NP_056118.2	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	943							zinc ion binding	p.I943M(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TTCACAATATCTTATCCATTC	0.398000													16	59					0	0	0.006122	0	0
SAE1	10055	broad.mit.edu	37	19	47706943	47706943	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:47706943G>T	ENST00000270225.7	+	8	962	c.894G>T	c.(892-894)gaG>gaT	p.E298D	SAE1_ENST00000598840.1_Missense_Mutation_p.E217D|SAE1_ENST00000540850.1_Missense_Mutation_p.E124D|SAE1_ENST00000413379.3_Intron|SAE1_ENST00000392776.3_Missense_Mutation_p.R250I	NM_005500.2	NP_005491.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1	298					protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity	p.E298D(1)		endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		GCTTCTCCGAGATGGCCCCAG	0.458000													37	150					1.23713e-20	2.10932e-20	0.014410	1	0
MLC1	23209	broad.mit.edu	37	22	50523201	50523201	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr22:50523201G>A	ENST00000311597.5	-	2	737	c.131C>T	c.(130-132)cCc>cTc	p.P44L	MLC1_ENST00000450140.2_Missense_Mutation_p.P44L|MLC1_ENST00000395876.2_Missense_Mutation_p.P44L|MLC1_ENST00000431262.2_Missense_Mutation_p.P44L|MLC1_ENST00000538737.1_Missense_Mutation_p.P44L|MLC1_ENST00000535444.1_Intron	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	44						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity	p.P44L(1)		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)		GAAGCAGGGGGGCAGTCTCTT	0.652000													3	58					0	0	0.004672	0	0
RAD21	5885	broad.mit.edu	37	8	117870687	117870687	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:117870687C>A	ENST00000297338.2	-	5	672	c.385G>T	c.(385-387)Gtg>Ttg	p.V129L	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	129					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding	p.V129L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TGCTGGGCCACATCGATGTCA	0.318000													15	144					2.23348e-06	3.01406e-06	0.004007	1	0
COL27A1	85301	broad.mit.edu	37	9	117033025	117033025	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr9:117033025G>T	ENST00000356083.3	+	36	3964	c.3573G>T	c.(3571-3573)gaG>gaT	p.E1191D	COL27A1_ENST00000477421.2_3'UTR	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1191	Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent	p.E1191D(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CAGGCCTTGAGGGTGACAGTG	0.612000													8	47					0.000442599	0.000511634	0.006214	1	0
PHLPP2	23035	broad.mit.edu	37	16	71701199	71701199	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:71701199C>A	ENST00000393524.2	-	11	2399	c.1666G>T	c.(1666-1668)Gga>Tga	p.G556*	PHLPP2_ENST00000568954.1_Nonsense_Mutation_p.G556*|PHLPP2_ENST00000360429.3_Nonsense_Mutation_p.G556*|PHLPP2_ENST00000567016.1_Nonsense_Mutation_p.G591*|PHLPP2_ENST00000356272.3_Nonsense_Mutation_p.G556*			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	602						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	p.G556*(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TGATTGTGTCCCAGCATCAGT	0.453000													5	56					0.00116845	0.00132079	0.001168	1	0
DPYS	1807	broad.mit.edu	37	8	105463629	105463629	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:105463629C>A	ENST00000351513.2	-	2	400	c.268G>T	c.(268-270)Gct>Tct	p.A90S		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	90					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	p.A90S(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCTGAGAGAGCAGCCTGGAAT	0.448000													6	45					2.0095e-06	2.72379e-06	0.001984	1	0
GPR139	124274	broad.mit.edu	37	16	20043061	20043061	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:20043061G>T	ENST00000570682.1	-	2	1358	c.1058C>A	c.(1057-1059)cCg>cAg	p.P353Q		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	353						integral to membrane|plasma membrane		p.P353Q(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						ATGGAATCACGGGGATACTTT	0.473000													8	87					0.00621372	0.00675788	0.006214	1	0
IGLV2-23	28813	broad.mit.edu	37	22	23040815	23040815	+	RNA	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr22:23040815C>G	ENST00000390306.2	+	0	425																											GGCTCCAAGTCTGGCAACACG	0.542000													18	129					0	0	0.006122	0	0
ZNF451	26036	broad.mit.edu	37	6	57012630	57012630	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:57012630G>T	ENST00000370706.4	+	10	1991	c.1747G>T	c.(1747-1749)Gct>Tct	p.A583S	RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.A583S|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.A583S|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	583					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.A583S(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TAATTTGACTGCTAACAAGCC	0.388000													8	104					0.00307968	0.00340991	0.003080	1	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532371	84532371	+	RNA	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr9:84532371C>A	ENST00000527857.1	+	0	2393					NR_026851.1																						CCCAAAAGATCACCTATTGCA	0.468000													15	53					0.000219431	0.000261214	0.002450	1	0
ANKMY2	57037	broad.mit.edu	37	7	16649287	16649287	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:16649287G>C	ENST00000306999.2	-	7	1093	c.850C>G	c.(850-852)Cag>Gag	p.Q284E		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	284						cilium	zinc ion binding	p.Q284E(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CGAACCAGCTGCTGGAGGAGT	0.398000													5	48					0	0	0.001168	0	0
PHEX	5251	broad.mit.edu	37	X	22112124	22112124	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:22112124C>A	ENST00000379374.4	+	7	1321	c.756C>A	c.(754-756)ttC>ttA	p.F252L	PHEX_ENST00000535894.1_Missense_Mutation_p.F155L|PHEX_ENST00000475778.1_3'UTR|PHEX_ENST00000537599.1_Missense_Mutation_p.F252L	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	252			F -> S (in HYP).		biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	p.F252L(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TTTACAAGTTCATGGTGGATA	0.413000													28	154					3.73988e-18	6.28328e-18	0.006320	1	0
MAGEB3	4114	broad.mit.edu	37	X	30254210	30254210	+	Silent	SNP	A	A	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:30254210A>C	ENST00000361644.2	+	5	906	c.169A>C	c.(169-171)Agg>Cgg	p.R57R	MAGEB3_ENST00000378986.1_Silent_p.R57R	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	57								p.R57R(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						GTCTGCTGGTAGGTCACGTAG	0.438000													6	28					0	0	0.003080	0	0
SLC4A4	8671	broad.mit.edu	37	4	72121092	72121092	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:72121092A>T	ENST00000425175.1	+	3	346	c.229A>T	c.(229-231)Agc>Tgc	p.S77C	SLC4A4_ENST00000351898.6_Missense_Mutation_p.S77C|SLC4A4_ENST00000264485.5_Missense_Mutation_p.S77C|SLC4A4_ENST00000514331.1_3'UTR	NM_001134742.1	NP_001128214.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	77						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	p.S77C(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TGATGAATCCAGCAGCAGCAT	0.438000													15	122					0	0	0.003163	0	0
GIMAP8	155038	broad.mit.edu	37	7	150167962	150167962	+	Splice_Site	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:150167962G>T	ENST00000307271.3	+	3	1256	c.682_splice	c.e3+1	p.G228_splice		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	228						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	p.G228R(1)|p.G228C(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CAAGCCACAGGGTAAGTTGAT	0.378000													8	44					0.000274275	0.000319872	0.004482	1	0
ATF6	22926	broad.mit.edu	37	1	161771911	161771911	+	Missense_Mutation	SNP	A	A	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:161771911A>C	ENST00000367942.3	+	7	825	c.758A>C	c.(757-759)cAg>cCg	p.Q253P		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	253					positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.Q253P(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			CCCTCTGCTCAGCCAGTCCTT	0.512000													11	84					0	0	0.008291	0	0
TPGS2	25941	broad.mit.edu	37	18	34378463	34378463	+	Silent	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr18:34378463C>A	ENST00000334295.4	-	6	1033	c.606G>T	c.(604-606)ctG>ctT	p.L202L	TPGS2_ENST00000383056.3_Silent_p.L159L|TPGS2_ENST00000590652.1_5'UTR|TPGS2_ENST00000589049.1_Silent_p.L202L|TPGS2_ENST00000587129.1_Silent_p.L202L|TPGS2_ENST00000590842.1_Silent_p.L202L|TPGS2_ENST00000593035.1_Silent_p.L167L	NM_015476.2	NP_056291.2	Q68CL5	TPGS2_HUMAN	tubulin polyglutamylase complex subunit 2	202						cytoplasm|microtubule		p.L202L(1)									GCCACTGGGGCAGGCCCAGGT	0.498000													34	99					5.91797e-21	1.01278e-20	0.012213	1	0
RRNAD1	51093	broad.mit.edu	37	1	156704034	156704034	+	Silent	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:156704034G>C	ENST00000368216.4	+	6	1500	c.870G>C	c.(868-870)ctG>ctC	p.L290L	RRNAD1_ENST00000476229.1_Intron|RRNAD1_ENST00000368218.4_Intron	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	290						integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity	p.L290L(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						ACATGAAGCTGAGTGACCCTG	0.642000													4	34					0	0	0.000602	0	0
MAGEA8	4107	broad.mit.edu	37	X	149013559	149013559	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:149013559A>T	ENST00000535454.1	+	4	1062	c.513A>T	c.(511-513)gaA>gaT	p.E171D	MAGEA8_ENST00000286482.1_Missense_Mutation_p.E171D|MAGEA8_ENST00000542674.1_Missense_Mutation_p.E171D	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	171	MAGE.							p.E171D(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					ATGTGAAGGAAGTGGACCCTG	0.522000													8	62					0	0	0.006214	0	0
SMARCC2	6601	broad.mit.edu	37	12	56563372	56563372	+	Missense_Mutation	SNP	C	C	T	rs144543721	byFrequency	TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:56563372C>T	ENST00000394023.3	-	25	2761	c.2656G>A	c.(2656-2658)Gag>Aag	p.E886K	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Missense_Mutation_p.E855K|SMARCC2_ENST00000550164.1_Missense_Mutation_p.E886K|SMARCC2_ENST00000347471.4_Missense_Mutation_p.E886K	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	855					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	p.E855K(2)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AGGTTGCCCTCGCCAATGtcc	0.597000													4	41					0	0	0.009096	0	0
LCE1F	353137	broad.mit.edu	37	1	152748972	152748972	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:152748972C>T	ENST00000334371.2	+	1	125	c.125C>T	c.(124-126)tCc>tTc	p.S42F		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	42					keratinization			p.S42F(1)		kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ccTGTCTCTTCCTGCTGCAGC	0.677000													4	55					0	0	0.000602	0	0
EPCAM	4072	broad.mit.edu	37	2	47601119	47601119	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:47601119G>A	ENST00000263735.4	+	3	715	c.357G>A	c.(355-357)gtG>gtA	p.V119V	EPCAM_ENST00000405271.1_Silent_p.V147V	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule	119	Thyroglobulin type-1.				positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding	p.0?(2)|p.V119V(1)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						GCTGGTGTGTGAACACTGCTG	0.522000													6	44					0	0	0.001168	0	0
IGHV1-8	28472	broad.mit.edu	37	14	106539102	106539102	+	RNA	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:106539102T>A	ENST00000390599.2	-	0	389																											TACACGGCCGTGTCCTCAGAT	0.547000													32	80					0	0	0.003271	0	0
GGNBP2	79893	broad.mit.edu	37	17	34934557	34934557	+	Silent	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:34934557C>T	ENST00000304718.4	+	7	1102	c.786C>T	c.(784-786)tgC>tgT	p.C262C		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	262					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		p.C262C(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TACATGTTTGCTGTGAAACAG	0.463000													22	170					0	0	0.006320	0	0
NTM	50863	broad.mit.edu	37	11	132016339	132016339	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:132016339G>T	ENST00000374786.1	+	2	810	c.331G>T	c.(331-333)Ggc>Tgc	p.G111C	NTM_ENST00000374791.3_Missense_Mutation_p.G111C|NTM_ENST00000539799.1_Missense_Mutation_p.G111C|NTM_ENST00000427481.2_Missense_Mutation_p.G102C|NTM_ENST00000425719.2_Missense_Mutation_p.G111C|NTM_ENST00000374784.1_Missense_Mutation_p.G111C	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	111	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		p.G111C(2)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GTATGACGAGGGCCCTTACAC	0.577000													7	41					0.000157383	0.000187838	0.003080	1	0
LRP1B	53353	broad.mit.edu	37	2	141474375	141474375	+	Silent	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:141474375G>T	ENST00000389484.3	-	36	6740	c.5769C>A	c.(5767-5769)acC>acA	p.T1923T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1923					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.T1923T(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)		TCCAGTAGATGGTATCATTTT	0.353000										TSP Lung(27;0.18)			4	54					0.00024832	0.000292572	0.009096	1	0
TRAF1	7185	broad.mit.edu	37	9	123675735	123675735	+	Silent	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr9:123675735C>G	ENST00000373887.3	-	5	3021	c.576G>C	c.(574-576)ggG>ggC	p.G192G	TRAF1_ENST00000540010.1_Silent_p.G192G|TRAF1_ENST00000546084.1_Silent_p.G70G	NM_005658.4	NP_005649.1	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1	192					apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding	p.G192G(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						CACGCAGCTTCCCCTCCAGCT	0.612000													7	42					0	0	0.001984	0	0
DSCAM	1826	broad.mit.edu	37	21	41725607	41725607	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr21:41725607T>A	ENST00000400454.1	-	5	1196	c.719A>T	c.(718-720)cAg>cTg	p.Q240L		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	240	Ig-like C2-type 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.Q240L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTCCACACGCTGCCCAGCCAT	0.547000													5	25					0	0	0.001168	0	0
OR4D2	124538	broad.mit.edu	37	17	56247937	56247937	+	Silent	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:56247937T>A	ENST00000545221.1	+	1	921	c.921T>A	c.(919-921)gtT>gtA	p.V307V		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V307V(1)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						ACCGGCTGGTTTGAGAGTGAC	0.498000													12	76					0	0	0.001855	0	0
SLC45A4	57210	broad.mit.edu	37	8	142228200	142228200	+	Silent	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:142228200G>C	ENST00000519067.1	-	4	1689	c.1386C>G	c.(1384-1386)ctC>ctG	p.L462L	SLC45A4_ENST00000517878.1_Silent_p.L513L|SLC45A4_ENST00000024061.3_Silent_p.L462L|SLC45A4_ENST00000433583.2_Silent_p.L455L			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	513					transport	integral to membrane		p.L462L(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGAGGTGGCAGAGGCACAGCC	0.642000													3	30					0	0	0.004672	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332570	22332570	+	RNA	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr15:22332570T>C	ENST00000558896.1	+	0	377																											CCCATGCTCATCTGCTCCAAT	0.398000													5	173					0	0	0.000602	0	0
FAM126B	285172	broad.mit.edu	37	2	201853122	201853122	+	Nonsense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:201853122G>C	ENST00000418596.2	-	11	1041	c.854C>G	c.(853-855)tCa>tGa	p.S285*	AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	285						intracellular		p.S285*(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						AAATGGTAATGAGTTTTTCAT	0.358000													9	92					0	0	0.010729	0	0
TSGA10IP	254187	broad.mit.edu	37	11	65721100	65721100	+	RNA	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:65721100G>T	ENST00000532620.1	+	0	1445							Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein									p.R375L(1)		endometrium(2)|kidney(3)|lung(9)	14						GAGCTGCGGCGGGCCCGGACA	0.716000													11	45					5.16669e-11	7.99358e-11	0.010729	1	0
BZRAP1	9256	broad.mit.edu	37	17	56393883	56393883	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:56393883C>A	ENST00000355701.3	-	15	2761	c.1891G>T	c.(1891-1893)Gta>Tta	p.V631L	BZRAP1_ENST00000343736.4_Missense_Mutation_p.V631L|BZRAP1_ENST00000268893.6_Missense_Mutation_p.V571L	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	631						mitochondrion	benzodiazepine receptor binding	p.V631L(2)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGCTCCTCTACCTCACTGGCT	0.627000													8	32					0.00307968	0.00340991	0.003080	1	0
LAMP2	3920	broad.mit.edu	37	X	119575692	119575692	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:119575692T>A	ENST00000371335.4	-	8	1122	c.986A>T	c.(985-987)tAt>tTt	p.Y329F	LAMP2_ENST00000540603.1_Missense_Mutation_p.Y282F|LAMP2_ENST00000200639.4_Missense_Mutation_p.Y329F|LAMP2_ENST00000434600.2_Missense_Mutation_p.Y329F|LAMP2_ENST00000538785.1_Missense_Mutation_p.Y218F	NM_013995.2	NP_054701.1	P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	329	Second lumenal domain.				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane		p.Y329F(3)		endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						GTTGCACATATAAGAACTTCC	0.388000													20	114					0	0	0.012319	0	0
VAV3	10451	broad.mit.edu	37	1	108185330	108185330	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:108185330G>T	ENST00000370056.4	-	20	2099	c.1825C>A	c.(1825-1827)Cca>Aca	p.P609T	VAV3_ENST00000544443.1_Missense_Mutation_p.P13T|VAV3_ENST00000527011.1_Missense_Mutation_p.P609T|VAV3_ENST00000415432.2_Missense_Mutation_p.P49T|VAV3_ENST00000343258.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	609	SH3 1.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	p.P609T(1)|p.P49T(1)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TGCAGAGCTGGGGGTGGTGTT	0.448000													12	97					1.5842e-08	2.29272e-08	0.001855	1	0
N4BP1	9683	broad.mit.edu	37	16	48582008	48582008	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:48582008G>A	ENST00000262384.3	-	5	2371	c.2135C>T	c.(2134-2136)gCg>gTg	p.A712V	N4BP1_ENST00000565423.1_5'UTR	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	712					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)				AGTTTTGTCCGCTAAGTGTAG	0.338000													4	132					0	0	0.009096	0	0
TLL1	7092	broad.mit.edu	37	4	166964506	166964506	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:166964506G>C	ENST00000061240.2	+	12	2106	c.1459G>C	c.(1459-1461)Gaa>Caa	p.E487Q	TLL1_ENST00000507499.1_Missense_Mutation_p.E487Q	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	487	CUB 2.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.E487Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CCCGATGAAAGAATGTGTGTG	0.423000													17	161					0	0	0.004007	0	0
TRIP12	9320	broad.mit.edu	37	2	230661452	230661452	+	Nonsense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:230661452G>C	ENST00000283943.5	-	24	3624	c.3446C>G	c.(3445-3447)tCa>tGa	p.S1149*	TRIP12_ENST00000389045.3_Nonsense_Mutation_p.S879*|TRIP12_ENST00000543084.1_3'UTR|TRIP12_ENST00000389044.4_Nonsense_Mutation_p.S1197*	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1149					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	p.S1149*(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		ATCTGACTCTGAGACTATGCT	0.373000													12	59					0	0	0.013537	0	0
KMT2E	55904	broad.mit.edu	37	7	104749463	104749463	+	Silent	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:104749463C>G	ENST00000334877.4	+	23	4077	c.3543C>G	c.(3541-3543)ctC>ctG	p.L1181L	KMT2E_ENST00000257745.4_Silent_p.L1181L|KMT2E_ENST00000311117.3_Silent_p.L1181L|KMT2E_ENST00000334914.7_Silent_p.L236L					lysine (K)-specific methyltransferase 2E									p.L1181L(1)									ACTTTCCACTCATTAGTGTAT	0.458000													4	47					0	0	0.009096	0	0
GRM7	2917	broad.mit.edu	37	3	7340467	7340467	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:7340467C>G	ENST00000486284.1	+	3	1107	c.833C>G	c.(832-834)cCc>cGc	p.P278R	GRM7_ENST00000357716.4_Missense_Mutation_p.P278R|GRM7_ENST00000402647.2_Missense_Mutation_p.P278R|GRM7_ENST00000403881.1_Missense_Mutation_p.P278R|GRM7_ENST00000389336.4_Missense_Mutation_p.P278R	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	278					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	p.P278R(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CTGGACACCCCCAACTCCAGG	0.453000													6	45					0	0	0.001168	0	0
MARC1	64757	broad.mit.edu	37	1	220970054	220970054	+	Silent	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:220970054G>T	ENST00000366910.5	+	3	705	c.519G>T	c.(517-519)ctG>ctT	p.L173L	MARC1_ENST00000496110.1_3'UTR	NM_022746.3	NP_073583.3	Q5VT66	MOSC1_HUMAN	mitochondrial amidoxime reducing component 1	173							molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding	p.L173L(1)									CCAGCTTCCTGAAGTCACAGC	0.602000													8	23					3.09899e-07	4.36136e-07	0.004482	1	0
G3BP1	10146	broad.mit.edu	37	5	151173720	151173720	+	Splice_Site	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:151173720G>T	ENST00000394123.3	+	5	497	c.351_splice	c.e5-1	p.G118_splice	G3BP1_ENST00000356245.3_Splice_Site_p.G118_splice|G3BP1_ENST00000543466.1_Intron			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	118	NTF2.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding	p.G118W(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			GGCATTGCAGGGGTCTGTTGC	0.413000													8	69					0.000274275	0.000319872	0.004482	1	0
OR52N1	79473	broad.mit.edu	37	11	5809298	5809298	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:5809298A>G	ENST00000317078.1	-	1	748	c.749T>C	c.(748-750)aTa>aCa	p.I250T	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I250T(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GGTGAGGACTATGGCACAGAA	0.448000													10	78					0	0	0.008291	0	0
NFAT5	10725	broad.mit.edu	37	16	69724898	69724898	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:69724898G>A	ENST00000349945.1	+	13	3100	c.1548G>A	c.(1546-1548)ctG>ctA	p.L516L	NFAT5_ENST00000354436.2_Silent_p.L592L|NFAT5_ENST00000566899.1_Silent_p.L516L|NFAT5_ENST00000567239.1_Silent_p.L609L|NFAT5_ENST00000432919.1_Silent_p.L610L|NFAT5_ENST00000393742.2_Silent_p.L516L	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	592					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.L516L(1)|p.L610L(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTAATGCCCTGATGACTCCAC	0.328000													11	86					0	0	0.010729	0	0
CCDC97	90324	broad.mit.edu	37	19	41822729	41822729	+	Nonsense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:41822729C>T	ENST00000269967.3	+	2	609	c.487C>T	c.(487-489)Cga>Tga	p.R163*		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	163								p.R163*(1)		biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						TGCTGCCCTGCGAGAGCTGAT	0.637000													8	33					0	0	0.008291	0	0
ACOT12	134526	broad.mit.edu	37	5	80631677	80631677	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:80631677C>A	ENST00000307624.3	-	12	1200	c.1172G>T	c.(1171-1173)tGg>tTg	p.W391L	ACOT12_ENST00000508234.1_5'UTR	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	391	START.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity	p.W391L(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		CTTTTCAACCCAAACAGATAA	0.353000													11	73					0.000978159	0.00111807	0.010729	1	0
MRPL51	51258	broad.mit.edu	37	12	6602071	6602071	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:6602071C>G	ENST00000229238.3	-	2	608	c.147G>C	c.(145-147)gaG>gaC	p.E49D	MRPL51_ENST00000543703.1_Intron|MRPL51_ENST00000543164.1_5'UTR	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN	mitochondrial ribosomal protein L51	49					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome	p.E49D(1)		kidney(2)|large_intestine(1)|lung(3)	6						TGGCCCTTTTCTCGTTCCAAC	0.507000													6	94					0	0	0.004482	0	0
EVI2B	2124	broad.mit.edu	37	17	29632338	29632338	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:29632338G>A	ENST00000330927.4	-	2	444	c.290C>T	c.(289-291)tCt>tTt	p.S97F	CTD-2370N5.3_ENST00000578584.1_3'UTR|EVI2B_ENST00000577894.1_Missense_Mutation_p.S97F|EVI2B_ENST00000544462.1_Missense_Mutation_p.S112F|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	97						cytoplasm|integral to plasma membrane		p.0?(8)|p.?(3)|p.S97F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		TTGTCCAGCAGAAGTATGTGC	0.478000													33	155					0	0	0.003271	0	0
SIRT7	51547	broad.mit.edu	37	17	79872369	79872369	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:79872369C>A	ENST00000328666.6	-	7	679	c.617G>T	c.(616-618)cGg>cTg	p.R206L		NM_016538.2	NP_057622.1	Q9NRC8	SIRT7_HUMAN	sirtuin 7	206	Deacetylase sirtuin-type.				chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding	p.R206L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			ATCGAACACCCGCACGTACTC	0.632000													7	56					2.17888e-05	2.77724e-05	0.006214	1	0
DPPA4	55211	broad.mit.edu	37	3	109050827	109050827	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:109050827T>A	ENST00000335658.6	-	3	284	c.230A>T	c.(229-231)aAg>aTg	p.K77M	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	77						nucleus	protein binding	p.K77M(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TGGTATCTTCTTCTGAGGTCT	0.463000													38	159					0	0	0.011902	0	0
SAFB2	9667	broad.mit.edu	37	19	5592837	5592837	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:5592837C>G	ENST00000252542.4	-	16	2533	c.2269G>C	c.(2269-2271)Gac>Cac	p.D757H		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	757	Arg-rich.|Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding	p.D757H(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CGGGGAAAGTCTGCACGATAT	0.512000													3	37					0	0	0.004672	0	0
ASAP1	50807	broad.mit.edu	37	8	131104234	131104234	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:131104234C>A	ENST00000357668.1	-	24	2584	c.2557G>T	c.(2557-2559)Ggc>Tgc	p.G853C	ASAP1_ENST00000518721.1_Missense_Mutation_p.G853C			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	853	Pro-rich.				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	p.G853C(1)		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						GGAACTGCGCCTTTGTTTGGG	0.607000													25	188					2.20474e-14	3.59247e-14	0.003755	1	0
CCDC30	728621	broad.mit.edu	37	1	43119529	43119529	+	Nonsense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:43119529C>T	ENST00000428554.2	+	23	3325	c.2182C>T	c.(2182-2184)Caa>Taa	p.Q728*	CCDC30_ENST00000507855.1_Nonsense_Mutation_p.Q517*|CCDC30_ENST00000390640.4_Nonsense_Mutation_p.Q517*|CCDC30_ENST00000340612.4_Nonsense_Mutation_p.Q728*|CCDC30_ENST00000342022.4_Nonsense_Mutation_p.Q728*			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	728								p.Q728*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						TGCAAGTCTTCAAGAGACTGA	0.418000													5	62					0	0	0.001168	0	0
PALM2	114299	broad.mit.edu	37	9	112705113	112705113	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr9:112705113G>T	ENST00000448454.2	+	8	650	c.650G>T	c.(649-651)cGc>cTc	p.R217L	AKAP2_ENST00000510514.5_Intron|PALM2_ENST00000374531.2_Missense_Mutation_p.R183L|AKAP2_ENST00000555236.1_Intron|PALM2-AKAP2_ENST00000374530.3_Intron|PALM2-AKAP2_ENST00000302798.7_Intron|PALM2_ENST00000483909.1_Missense_Mutation_p.R181L|PALM2_ENST00000314527.4_Missense_Mutation_p.R215L					paralemmin 2									p.R183L(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						TATGAGGTGCGCTCAGGAGGC	0.468000													6	24					8.12818e-05	9.85462e-05	0.001984	1	0
CHRM3	1131	broad.mit.edu	37	1	240072435	240072435	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:240072435C>A	ENST00000255380.4	+	5	2463	c.1684C>A	c.(1684-1686)Cag>Aag	p.Q562K		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	562					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.Q562K(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	GCTGCTGTGCCAGTGTGACAA	0.517000													6	69					3.59834e-05	4.52376e-05	0.001168	1	0
WASF1	8936	broad.mit.edu	37	6	110424732	110424732	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:110424732C>G	ENST00000392589.1	-	9	1578	c.742G>C	c.(742-744)Gga>Cga	p.G248R	WASF1_ENST00000392587.2_Missense_Mutation_p.G248R|WASF1_ENST00000359451.2_Missense_Mutation_p.G248R|WASF1_ENST00000392588.1_Missense_Mutation_p.G248R|WASF1_ENST00000392586.1_Missense_Mutation_p.G248R	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	248					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding	p.G248R(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		GAGTAAGATCCATCCATATGA	0.398000													6	55					0	0	0.001984	0	0
FANCD2	2177	broad.mit.edu	37	3	10105580	10105580	+	Silent	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:10105580G>T	ENST00000287647.3	+	21	2025	c.1932G>T	c.(1930-1932)ctG>ctT	p.L644L	FANCD2_ENST00000419585.1_Silent_p.L644L|FANCD2_ENST00000383807.1_Silent_p.L644L|FANCD2_ENST00000383806.1_Silent_p.L644L	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	644					DNA repair|response to gamma radiation	nucleoplasm	protein binding	p.L644L(3)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		ATGAAAAGCTGGATCCAAAAG	0.433000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				5	108					1.26484e-09	1.90556e-09	0.003080	1	0
AREL1	9870	broad.mit.edu	37	14	75142581	75142581	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:75142581G>C	ENST00000356357.4	-	8	1416	c.901C>G	c.(901-903)Ctt>Gtt	p.L301V	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1			apoptosis resistant E3 ubiquitin protein ligase 1									p.L301V(1)									GCATTATAAAGATAAGCCTCA	0.468000													17	174					0	0	0.004990	0	0
PLCB1	23236	broad.mit.edu	37	20	8782714	8782714	+	Silent	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr20:8782714C>G	ENST00000378641.3	+	32	3910	c.3435C>G	c.(3433-3435)tcC>tcG	p.S1145S	PLCB1_ENST00000338037.6_Intron|PLCB1_ENST00000378637.2_Silent_p.S1145S	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	0					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.S1145S(1)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GGGAAGGTTCCTCCTCATTCT	0.483000													5	28					0	0	0.000602	0	0
GPR63	81491	broad.mit.edu	37	6	97246829	97246829	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:97246829T>A	ENST00000229955.3	-	2	1124	c.779A>T	c.(778-780)tAc>tTc	p.Y260F	GPR63_ENST00000417980.1_Missense_Mutation_p.Y260F	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	260						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	p.Y260F(1)		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)		CATAAATGAGTACAGTATTAC	0.473000													14	85					0	0	0.004990	0	0
MAGI3	260425	broad.mit.edu	37	1	114189153	114189153	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:114189153G>A	ENST00000369615.1	+	12	2106	c.2044G>A	c.(2044-2046)Gag>Aag	p.E682K	MAGI3_ENST00000369611.4_Missense_Mutation_p.E682K|MAGI3_ENST00000369617.4_Missense_Mutation_p.E707K|MAGI3_ENST00000307546.9_Missense_Mutation_p.E682K	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	707					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	p.E682K(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCCATAAATGAGCCTATTCC	0.378000													4	75					0	0	0.009096	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12884909	12884909	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:12884909T>C	ENST00000535591.1	-	4	1397	c.1202A>G	c.(1201-1203)aAa>aGa	p.K401R		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	401										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GTGCCTCACTTTCTTCATCAG	0.498000													9	228					0	0	0.001855	0	0
INADL	10207	broad.mit.edu	37	1	62237296	62237296	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:62237296A>G	ENST00000371158.2	+	6	832	c.718A>G	c.(718-720)Aca>Gca	p.T240A	INADL_ENST00000316485.6_Missense_Mutation_p.T240A	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	240					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	p.T240A(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TCTGCCTGAAACAGTGAGTTG	0.373000													3	30					0	0	0.004672	0	0
TMTC1	83857	broad.mit.edu	37	12	29908738	29908738	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:29908738C>A	ENST00000256062.5	-	4	784	c.311G>T	c.(310-312)gGg>gTg	p.G104V	TMTC1_ENST00000381224.2_Missense_Mutation_p.G104V|TMTC1_ENST00000539277.1_Missense_Mutation_p.G212V|TMTC1_ENST00000552618.1_Missense_Mutation_p.G212V|TMTC1_ENST00000551659.1_Missense_Mutation_p.G212V	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	212						integral to membrane	binding	p.G104V(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					CGCACAGGTCCCCAGAAACAA	0.493000													11	55					9.70103e-10	1.47116e-09	0.008291	1	0
XPNPEP3	63929	broad.mit.edu	37	22	41282319	41282319	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr22:41282319G>T	ENST00000357137.4	+	4	676	c.592G>T	c.(592-594)Gag>Tag	p.E198*	XPNPEP3_ENST00000414396.1_Nonsense_Mutation_p.E198*|XPNPEP3_ENST00000544094.1_Nonsense_Mutation_p.E175*|XPNPEP3_ENST00000541156.1_Nonsense_Mutation_p.E198*	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	198					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity	p.E198*(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						ATTCTAAGCTGAGACGAACAT	0.408000													10	93					2.27111e-07	3.20115e-07	0.013537	1	0
COL9A3	1299	broad.mit.edu	37	20	61468561	61468561	+	Missense_Mutation	SNP	G	G	A	rs140377811	byFrequency	TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr20:61468561G>A	ENST00000343916.3	+	30	1733	c.1730G>A	c.(1729-1731)cGa>cAa	p.R577Q	COL9A3_ENST00000462700.1_3'UTR	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	577	Triple-helical region 2 (COL2).				axon guidance	collagen type IX		p.R577Q(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					CCTGGCGCTCGAGGACCCCCT	0.672000													9	77					0	0	0.004482	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15579494	15579494	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:15579494G>T	ENST00000340880.4	-	5	2191	c.1711C>A	c.(1711-1713)Cca>Aca	p.P571T	PGLYRP2_ENST00000292609.4_3'UTR	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	571					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	p.P571T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						TCTGTGGCTGGCAGGGTCCTT	0.498000													18	93					4.96729e-08	7.1105e-08	0.008871	1	0
ZNF563	147837	broad.mit.edu	37	19	12429757	12429757	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:12429757C>A	ENST00000293725.5	-	4	1287	c.1082G>T	c.(1081-1083)gGa>gTa	p.G361V		NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G361V(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GGGTTTCTCTCCAGTGTGAAT	0.423000													27	138					1.42536e-11	2.23915e-11	0.004656	1	0
ASPM	259266	broad.mit.edu	37	1	197072203	197072203	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:197072203T>C	ENST00000367409.4	-	18	6434	c.6178A>G	c.(6178-6180)Aaa>Gaa	p.K2060E	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2060	IQ 15.				mitosis	cytoplasm|nucleus	calmodulin binding	p.K2060E(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TATTTCTTTTTGGTTTTGTAA	0.328000													10	127					0	0	0.010729	0	0
CEP85	64793	broad.mit.edu	37	1	26581979	26581979	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:26581979G>C	ENST00000252992.4	+	4	657	c.526G>C	c.(526-528)Gcg>Ccg	p.A176P	CEP85_ENST00000451429.2_Missense_Mutation_p.A125P	NM_022778.2	NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	176						centrosome|nucleolus|spindle pole		p.A176P(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						ACAAGAAGAGGCGAGGAAGTT	0.468000													5	72					0	0	0.000602	0	0
CTSF	8722	broad.mit.edu	37	11	66333336	66333336	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:66333336G>A	ENST00000310325.5	-	7	1039	c.930C>T	c.(928-930)ctC>ctT	p.L310L		NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	310					proteolysis	lysosome	cysteine-type endopeptidase activity	p.L310L(1)		endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TCCCCTGGTTGAGAAACCACT	0.617000													7	44					0	0	0.003080	0	0
LRP1B	53353	broad.mit.edu	37	2	141108599	141108599	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:141108599C>G	ENST00000389484.3	-	77	12630	c.11659G>C	c.(11659-11661)Gat>Cat	p.D3887H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3887					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D3887H(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)		AGAACTTGATCTTCAGAGCCT	0.264000										TSP Lung(27;0.18)			8	57					0	0	0.003080	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803016	185803016	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:185803016C>A	ENST00000302277.6	+	4	3487	c.2893C>A	c.(2893-2895)Cag>Aag	p.Q965K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	965						intracellular	zinc ion binding	p.Q965K(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TAGACAGTCACAGCCTAAATC	0.388000													18	95					1.33834e-09	2.00969e-09	0.007413	1	0
GSTM2	2946	broad.mit.edu	37	1	110214125	110214125	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:110214125G>A	ENST00000369831.2	+	7	581	c.487G>A	c.(487-489)Gtc>Atc	p.V163I	GSTM2_ENST00000369827.3_Intron|GSTM2_ENST00000369829.2_Missense_Mutation_p.V163I|GSTM2_ENST00000241337.4_Missense_Mutation_p.V163I|GSTM2_ENST00000442650.1_Missense_Mutation_p.V163I|GSTM2_ENST00000414179.2_Missense_Mutation_p.V59I|GSTM2_ENST00000460717.3_Missense_Mutation_p.V163I					glutathione S-transferase mu 2 (muscle)									p.V163I(3)		kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)		CGCTTATGATGTCCTTGAGAG	0.478000													13	86					0	0	0.007413	0	0
POTEM	641455	broad.mit.edu	37	14	20010235	20010235	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:20010235A>G	ENST00000551509.1	-	5	974	c.923T>C	c.(922-924)gTt>gCt	p.V308A	RP11-244H18.1_ENST00000547584.1_lincRNA	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	308										endometrium(4)|kidney(1)|lung(4)	9						AAGTATGAGAACAGTTCTAAA	0.368000													3	34					0	0	0.004672	0	0
OR14K1	343170	broad.mit.edu	37	1	247902780	247902780	+	Silent	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:247902780C>T	ENST00000283225.2	+	1	864	c.864C>T	c.(862-864)taC>taT	p.Y288Y	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1									p.Y288Y(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						CTGTTATCTACTGTCTGAAGA	0.423000													3	36					0	0	0.009096	0	0
FREM2	341640	broad.mit.edu	37	13	39263777	39263777	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr13:39263777A>T	ENST00000280481.7	+	1	2512	c.2296A>T	c.(2296-2298)Aac>Tac	p.N766Y		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	766					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.N766Y(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTTGACTGACAACCCCTCAGT	0.532000													3	53					0	0	0.009096	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64748563	64748563	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:64748563C>G	ENST00000536360.1	-	5	1627	c.814G>C	c.(814-816)Gaa>Caa	p.E272Q				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	272	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.E272Q(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		ATGTAATGTTCAATGTCTTTG	0.368000													5	70					0	0	0.001168	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140764324	140764324	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:140764324G>T	ENST00000518325.1	+	1	1858	c.1858G>T	c.(1858-1860)Ggg>Tgg	p.G620W	PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018920.2	NP_061743.1												p.G620W(1)		NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTGCGGTTGGGCTGTACAC	0.647000													5	42					0.00116845	0.00132079	0.001168	1	0
DSCAM	1826	broad.mit.edu	37	21	41539175	41539175	+	Silent	SNP	T	T	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr21:41539175T>G	ENST00000400454.1	-	16	3465	c.2988A>C	c.(2986-2988)atA>atC	p.I996I		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	996	Fibronectin type-III 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.I996I(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCTGAGATGATATAGGCTCCA	0.522000													6	72					0	0	0.003080	0	0
DRGX	644168	broad.mit.edu	37	10	50599243	50599243	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr10:50599243C>A	ENST00000374139.2	-	2	109	c.99G>T	c.(97-99)caG>caT	p.Q33H	DRGX_ENST00000434016.1_Missense_Mutation_p.Q38H			C9JW76	C9JW76_HUMAN	dorsal root ganglia homeobox	38					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q38H(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						GGTTCCGGCGCTGTTTTCTAC	0.502000													4	12					0.000602214	0.000694398	0.000602	1	0
SCNN1A	6337	broad.mit.edu	37	12	6483728	6483728	+	Silent	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:6483728C>A	ENST00000358945.3	-	1	662	c.222G>T	c.(220-222)ctG>ctT	p.L74L	SCNN1A_ENST00000396966.2_Silent_p.L74L|SCNN1A_ENST00000360168.3_Silent_p.L133L|SCNN1A_ENST00000538979.1_Intron|SCNN1A_ENST00000543768.1_Silent_p.L97L|SCNN1A_ENST00000228916.2_Silent_p.L74L			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	74					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding	p.L74L(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	GGGAGCACACCAGGCGGATGG	0.607000													4	41					0.00024832	0.000292572	0.009096	1	0
BEND3	57673	broad.mit.edu	37	6	107391909	107391909	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:107391909G>A	ENST00000429433.2	-	5	1135	c.486C>T	c.(484-486)agC>agT	p.S162S	BEND3_ENST00000369042.1_Silent_p.S162S	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	162								p.S162S(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						AGGGGCTGTTGCTGGCGTTTG	0.572000													12	76					0	0	0.001855	0	0
DSCAM	1826	broad.mit.edu	37	21	42064747	42064747	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr21:42064747G>A	ENST00000400454.1	-	3	974	c.497C>T	c.(496-498)tCa>tTa	p.S166L		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	166	Ig-like C2-type 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.S166L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGAGACAAGTGAAACAGTGTC	0.502000													12	81					0	0	0.001855	0	0
MPDZ	8777	broad.mit.edu	37	9	13137969	13137969	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr9:13137969T>A	ENST00000319217.7	-	29	4434	c.4187A>T	c.(4186-4188)gAt>gTt	p.D1396V	MPDZ_ENST00000541718.1_Missense_Mutation_p.D1396V|MPDZ_ENST00000540202.1_5'UTR|MPDZ_ENST00000538841.1_Missense_Mutation_p.D255V|MPDZ_ENST00000536827.1_Missense_Mutation_p.D1363V|MPDZ_ENST00000381015.4_Missense_Mutation_p.D1396V|MPDZ_ENST00000447879.1_Missense_Mutation_p.D1363V|MPDZ_ENST00000546205.1_Missense_Mutation_p.D1410V|MPDZ_ENST00000381022.2_Missense_Mutation_p.D1396V	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1396	PDZ 8.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	p.D1396V(2)		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)		TAGAAGCTCATCTGCAATTTG	0.393000													4	45					0	0	0.000602	0	0
PCDH10	57575	broad.mit.edu	37	4	134072244	134072244	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:134072244G>T	ENST00000264360.4	+	1	1775	c.949G>T	c.(949-951)Gac>Tac	p.D317Y		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	317	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L316_D317>FY(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CGGCGAGTTGGACTATGAAGA	0.617000													8	53					7.48243e-07	1.02786e-06	0.006214	1	0
KCNJ8	3764	broad.mit.edu	37	12	21919187	21919187	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:21919187G>C	ENST00000240662.2	-	3	1090	c.745C>G	c.(745-747)Cct>Gct	p.P249A	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	249						voltage-gated potassium channel complex		p.P249A(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	TTATCAACAGGAATGTCCAGT	0.483000													18	45					0	0	0.004990	0	0
RNF123	63891	broad.mit.edu	37	3	49735535	49735535	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:49735535G>T	ENST00000327697.6	+	7	592	c.448G>T	c.(448-450)Ggc>Tgc	p.G150C	RNF123_ENST00000432042.1_Missense_Mutation_p.G4C	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	150	B30.2/SPRY.					cytoplasm	ligase activity|protein binding|zinc ion binding	p.G150C(1)		NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CATGCAGATCGGCTGGTGCAC	0.617000													14	71					1.5842e-08	2.29272e-08	0.001855	1	0
MCF2	4168	broad.mit.edu	37	X	138713553	138713553	+	Splice_Site	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:138713553C>A	ENST00000520602.1	-	6	754		c.e6+1		MCF2_ENST00000370573.4_Splice_Site|MCF2_ENST00000370578.4_Splice_Site|MCF2_ENST00000370576.4_Splice_Site|MCF2_ENST00000519895.1_Splice_Site|MCF2_ENST00000536274.1_Intron|MCF2_ENST00000414978.1_Splice_Site|MCF2_ENST00000338585.6_Splice_Site			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	p.?(3)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					AGACAACATACATTTCTGAAG	0.373000													35	138					3.2961e-07	4.63167e-07	0.004878	1	0
NPM1	4869	broad.mit.edu	37	5	170819787	170819787	+	Silent	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:170819787G>T	ENST00000296930.5	+	5	727	c.426G>T	c.(424-426)cgG>cgT	p.R142R	NPM1_ENST00000393820.2_Silent_p.R142R|NPM1_ENST00000351986.6_Silent_p.R142R|NPM1_ENST00000517671.1_Silent_p.R142R	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	142	Required for interaction with SENP3.				anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding	p.R142R(2)	NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTGGAAAGCGGTCTGCCCCTG	0.393000			"""T, F """	"""ALK, RARA, MLF1"""	"""NHL, APL, AML"""								16	107					1.45105e-14	2.36859e-14	0.006122	1	0
POLR1B	84172	broad.mit.edu	37	2	113305083	113305083	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:113305083A>T	ENST00000263331.5	+	3	1011	c.431A>T	c.(430-432)aAg>aTg	p.K144M	POLR1B_ENST00000409894.3_Missense_Mutation_p.K144M|POLR1B_ENST00000537335.1_Intron|POLR1B_ENST00000417433.2_Missense_Mutation_p.K88M|POLR1B_ENST00000541869.1_Missense_Mutation_p.K182M	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	144					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	p.K144M(1)		breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						GTGAAATCCAAGCTTTGCAAC	0.468000													19	105					0	0	0.006122	0	0
GOLPH3	64083	broad.mit.edu	37	5	32126342	32126342	+	Silent	SNP	C	C	G	rs147714399		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:32126342C>G	ENST00000265070.6	-	4	1188	c.873G>C	c.(871-873)gcG>gcC	p.A291A		NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	291					cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding	p.A291A(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						CCGCCACCACCGCCCACAGAA	0.498000													31	130					0	0	0.012213	0	0
RELN	5649	broad.mit.edu	37	7	103363606	103363606	+	Silent	SNP	A	A	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:103363606A>G	ENST00000424685.2	-	8	945	c.786T>C	c.(784-786)tcT>tcC	p.S262S	RELN_ENST00000428762.1_Silent_p.S262S|RELN_ENST00000343529.5_Silent_p.S262S			P78509	RELN_HUMAN	reelin	262					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.S262S(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATTGGAGGACAGAAGCTGTTG	0.343000													10	26					0	0	0.002450	0	0
SEMA3D	223117	broad.mit.edu	37	7	84651811	84651811	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:84651811C>A	ENST00000284136.6	-	11	1353	c.1310G>T	c.(1309-1311)gGa>gTa	p.G437V	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	437	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	p.G437V(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						GAACGTTGGTCCTCCTGCAAC	0.443000													29	111					7.26314e-15	1.19621e-14	0.007291	1	0
SLC9A4	389015	broad.mit.edu	37	2	103090357	103090357	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:103090357G>T	ENST00000295269.4	+	1	596	c.139G>T	c.(139-141)Gct>Tct	p.A47S		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	47					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	p.A47S(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CGCTTGGTTTGCTGCTGCCAG	0.433000													26	174					1.2476e-16	2.06584e-16	0.006320	1	0
PCDH10	57575	broad.mit.edu	37	4	134084318	134084318	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:134084318G>T	ENST00000264360.4	+	4	3810	c.2984G>T	c.(2983-2985)gGg>gTg	p.G995V		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	995					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G995V(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCCCAGCCTGGGGCAGAGCGG	0.557000													23	114					6.21321e-17	1.03254e-16	0.002780	1	0
CSRNP3	80034	broad.mit.edu	37	2	166535349	166535349	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:166535349G>T	ENST00000314499.7	+	7	1220	c.844G>T	c.(844-846)Gag>Tag	p.E282*	CSRNP3_ENST00000342316.4_Nonsense_Mutation_p.E282*|CSRNP3_ENST00000409420.1_Nonsense_Mutation_p.E314*	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	282					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.E282*(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						GAAAAACCGAGAGCAGCAAAT	0.448000													7	56					8.12818e-05	9.85462e-05	0.001984	1	0
SLCO1A2	6579	broad.mit.edu	37	12	21422677	21422677	+	Silent	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:21422677T>A	ENST00000307378.6	-	16	2538	c.1818A>T	c.(1816-1818)gcA>gcT	p.A606A	SLCO1A2_ENST00000452078.1_Silent_p.A606A|SLCO1A2_ENST00000458504.1_Silent_p.A474A|SLCO1A2_ENST00000537524.1_Silent_p.A474A	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	606					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	p.A606A(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						CTCTTAGTGCTGCCGGCAATC	0.343000													4	27					0	0	0.001168	0	0
LRP1	4035	broad.mit.edu	37	12	57588394	57588394	+	Silent	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:57588394C>T	ENST00000243077.3	+	50	8569	c.8103C>T	c.(8101-8103)ttC>ttT	p.F2701F		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2701	LDL-receptor class A 15.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.F2701F(2)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGAATTACTTCGCCTGCCCTA	0.632000													13	49					0	0	0.001855	0	0
NOD1	10392	broad.mit.edu	37	7	30475652	30475652	+	Silent	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:30475652C>T	ENST00000222823.4	-	11	3108	c.2583G>A	c.(2581-2583)gcG>gcA	p.A861A		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	861					activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|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	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	p.A861A(2)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						GCAGGGCCCTCGCAAGGCTCT	0.443000													11	35					0	0	0.003163	0	0
PLXNB2	23654	broad.mit.edu	37	22	50724456	50724456	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr22:50724456G>T	ENST00000449103.1	-	10	2089	c.1949C>A	c.(1948-1950)tCg>tAg	p.S650*	PLXNB2_ENST00000359337.4_Nonsense_Mutation_p.S650*|PLXNB2_ENST00000496720.1_5'UTR			O15031	PLXB2_HUMAN	plexin B2	650					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	p.S693*(1)		breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-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)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGGGTTGGGCGAAGCCTCCCG	0.682000													4	24					4.096e-09	6.07133e-09	0.001168	1	0
PCDHA6	56142	broad.mit.edu	37	5	140209902	140209902	+	Silent	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:140209902C>A	ENST00000529310.1	+	1	2340	c.2226C>A	c.(2224-2226)tcC>tcA	p.S742S	PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1												p.S742S(2)		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)			TGGTGTGCTCCAGCGCAGTGG	0.692000													12	43					2.80697e-09	4.17413e-09	0.010729	1	0
NBEA	26960	broad.mit.edu	37	13	35684977	35684977	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr13:35684977G>T	ENST00000540320.1	+	13	2398	c.1864G>T	c.(1864-1866)Gct>Tct	p.A622S	NBEA_ENST00000310336.4_Missense_Mutation_p.A622S|NBEA_ENST00000379939.2_Missense_Mutation_p.A622S|NBEA_ENST00000400445.3_Missense_Mutation_p.A622S			Q8NFP9	NBEA_HUMAN	neurobeachin	622						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	p.A622S(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATATTTGTCTGCTGAATTTAT	0.328000													4	19					0.00024832	0.000292572	0.009096	1	0
PLEK	5341	broad.mit.edu	37	2	68607999	68607999	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:68607999A>T	ENST00000234313.7	+	3	522	c.343A>T	c.(343-345)Agg>Tgg	p.R115W		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	115					actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding	p.R115W(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		GAAATCTACCAGGAGGTCCAT	0.468000													30	173					0	0	0.012213	0	0
ZFHX4	79776	broad.mit.edu	37	8	77619809	77619809	+	Silent	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:77619809G>T	ENST00000521891.2	+	3	3067	c.2619G>T	c.(2617-2619)cgG>cgT	p.R873R	ZFHX4_ENST00000050961.6_Intron|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Intron|ZFHX4_ENST00000455469.2_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	863						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R873R(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTGAAATCCGGCTTGCCAGTG	0.438000										HNSCC(33;0.089)			3	17					6.4e-05	7.90712e-05	0.004672	1	0
CDH11	1009	broad.mit.edu	37	16	64981815	64981815	+	Silent	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:64981815T>C	ENST00000268603.4	-	13	2697	c.2082A>G	c.(2080-2082)aaA>aaG	p.K694K	CDH11_ENST00000394156.3_3'UTR|CDH11_ENST00000566827.1_Silent_p.K568K	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	694					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.K694K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GTTTGATGTCTTTGCGGGGGA	0.498000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			21	126					0	0	0.012319	0	0
ZMPSTE24	10269	broad.mit.edu	37	1	40758302	40758302	+	Silent	SNP	A	A	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:40758302A>G	ENST00000372759.3	+	10	1554	c.1389A>G	c.(1387-1389)ctA>ctG	p.L463L		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	463						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity	p.L463L(1)		endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			CTCCACTGCTAGAGAGACTTC	0.393000													3	101					0	0	0.004672	0	0
KLK8	11202	broad.mit.edu	37	19	51499412	51499412	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:51499412C>A	ENST00000600767.1	-	7	1175	c.686G>T	c.(685-687)gGc>gTc	p.G229V	KLK8_ENST00000291726.7_Missense_Mutation_p.G229V|KLK8_ENST00000391806.2_Missense_Mutation_p.G274V|KLK8_ENST00000320838.5_3'UTR|KLK8_ENST00000347619.4_Missense_Mutation_p.G88V|KLK8_ENST00000593490.1_3'UTR|KLK8_ENST00000598195.1_5'UTR|CTB-147C22.9_ENST00000594512.1_RNA			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	229	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	p.G274A(1)|p.G274V(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		GGGGTCTGAGCCCCAGGATGT	0.567000													17	90					1.5739e-10	2.41069e-10	0.004007	1	0
NFRKB	4798	broad.mit.edu	37	11	129746672	129746672	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:129746672C>A	ENST00000446488.3	-	16	1794	c.1691G>T	c.(1690-1692)cGg>cTg	p.R564L	NFRKB_ENST00000304521.5_Missense_Mutation_p.R564L|NFRKB_ENST00000524794.1_Missense_Mutation_p.R589L|NFRKB_ENST00000524746.1_Missense_Mutation_p.R564L	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	564					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding	p.R589L(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GGAGTGCTCCCGAGCCTTGTT	0.582000													15	54					0.000422831	0.000491876	0.004007	1	0
TAF1L	138474	broad.mit.edu	37	9	32632339	32632339	+	Missense_Mutation	SNP	C	C	T	rs145748175	by1000genomes	TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr9:32632339C>T	ENST00000242310.4	-	1	3328	c.3239G>A	c.(3238-3240)cGt>cAt	p.R1080H		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1080					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.R1080H(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTCTTTGTAACGCTCTTGATG	0.473000													21	114					0	0	0.012319	0	0
CCDC132	55610	broad.mit.edu	37	7	92923863	92923863	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:92923863G>T	ENST00000544910.1	+	15	1212	c.992G>T	c.(991-993)aGt>aTt	p.S331I	CCDC132_ENST00000305866.5_Missense_Mutation_p.S361I|CCDC132_ENST00000317751.6_Missense_Mutation_p.S92I|CCDC132_ENST00000535481.1_Missense_Mutation_p.S81I|CCDC132_ENST00000541136.1_Missense_Mutation_p.S172I	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	361								p.S361I(1)		endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TCAGAAGGGAGTAATATGATA	0.289000													12	104					3.27435e-08	4.72391e-08	0.002450	1	0
CADM2	253559	broad.mit.edu	37	3	85932560	85932560	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:85932560G>T	ENST00000383699.3	+	4	985	c.358G>T	c.(358-360)Gtc>Ttc	p.V120F	CADM2_ENST00000405615.2_Missense_Mutation_p.V113F|CADM2_ENST00000407528.2_Missense_Mutation_p.V111F	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	111					adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		p.V113F(1)|p.V120F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		TACAATGCCTGTCAAAACTTC	0.423000													6	43					0.00116845	0.00132079	0.001168	1	0
PEAK1	79834	broad.mit.edu	37	15	77472167	77472167	+	Nonsense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr15:77472167G>C	ENST00000560626.2	-	4	2577	c.2102C>G	c.(2101-2103)tCa>tGa	p.S701*	PEAK1_ENST00000558305.1_Nonsense_Mutation_p.S701*|PEAK1_ENST00000312493.4_Nonsense_Mutation_p.S701*			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	701					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.S701*(2)									CTGAGCCACTGAGCCCCTTTT	0.448000													11	190					0	0	0.008291	0	0
KRTAP22-1	337979	broad.mit.edu	37	21	31973475	31973475	+	Silent	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr21:31973475C>T	ENST00000334680.2	+	1	62	c.36C>T	c.(34-36)ggC>ggT	p.G12G		NM_181620.1	NP_853651.1	Q3MIV0	KR221_HUMAN	keratin associated protein 22-1	12						intermediate filament		p.G12G(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	8						GTGGCCAGGGCTATGCCAAAG	0.468000													10	166					0	0	0.008291	0	0
FAM83D	81610	broad.mit.edu	37	20	37580296	37580296	+	Silent	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr20:37580296C>T	ENST00000217429.4	+	4	1022	c.981C>T	c.(979-981)atC>atT	p.I327I		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	297					cell division|mitosis	cytoplasm|spindle pole		p.I327I(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				CCAAGCCCATCAGCCCCAAAC	0.502000													9	80					0	0	0.004482	0	0
GPR19	2842	broad.mit.edu	37	12	12815044	12815044	+	Silent	SNP	G	G	A	rs143793074		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:12815044G>A	ENST00000540510.1	-	2	531	c.339C>T	c.(337-339)ctC>ctT	p.L113L	GPR19_ENST00000332427.2_Silent_p.L113L			Q15760	GPR19_HUMAN	G protein-coupled receptor 19	113						integral to plasma membrane	G-protein coupled receptor activity	p.L113L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		CAACGCTGATGAGAAGGTCAG	0.512000													12	43					0	0	0.010729	0	0
CRYGB	1419	broad.mit.edu	37	2	209007476	209007476	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:209007476G>A	ENST00000260988.4	-	3	461	c.414C>T	c.(412-414)ccC>ccT	p.P138P		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	138	Beta/gamma crystallin 'Greek key' 4.				visual perception		structural constituent of eye lens	p.P138P(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		CCCTGTAGTTGGGCATCTCAT	0.542000													21	127					0	0	0.014323	0	0
SLC18A3	6572	broad.mit.edu	37	10	50820238	50820238	+	Silent	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr10:50820238G>T	ENST00000374115.3	+	1	1892	c.1452G>T	c.(1450-1452)gtG>gtT	p.V484V	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	484					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	p.V484V(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						AGCGCGATGTGCTGCTTGATG	0.667000													9	38					9.70103e-10	1.47116e-09	0.008291	1	0
HCRTR2	3062	broad.mit.edu	37	6	55120106	55120106	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:55120106A>G	ENST00000370862.3	+	3	911	c.575A>G	c.(574-576)gAg>gGg	p.E192G		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	192					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.E192G(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATCGTCATGGAGTGCAGCACC	0.498000													6	56					0	0	0.001168	0	0
SLC34A2	10568	broad.mit.edu	37	4	25669550	25669550	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:25669550G>C	ENST00000382051.3	+	6	622	c.572G>C	c.(571-573)gGa>gCa	p.G191A	SLC34A2_ENST00000510033.2_3'UTR|SLC34A2_ENST00000504570.1_Missense_Mutation_p.G190A|SLC34A2_ENST00000503434.1_Missense_Mutation_p.G190A	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	191					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	p.G191A(1)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GCCAACATTGGAACGTCAATC	0.512000			T	ROS1	NSCLC								4	35					0	0	0.009096	0	0
SPAG16	79582	broad.mit.edu	37	2	214215336	214215336	+	Silent	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:214215336G>T	ENST00000413312.1	+	6	882	c.636G>T	c.(634-636)ctG>ctT	p.L212L	SPAG16_ENST00000331683.5_Silent_p.L243L|SPAG16_ENST00000447990.1_Silent_p.L243L|SPAG16_ENST00000374309.3_Silent_p.L149L|SPAG16_ENST00000414961.2_Intron|SPAG16_ENST00000272898.7_Silent_p.L243L			Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	243					cilium assembly	cilium axoneme|flagellar axoneme		p.L243L(1)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AGAAAATGCTGACCTCCTTGG	0.313000													9	76					6.42651e-13	1.02891e-12	0.010729	1	0
CRYAB	1410	broad.mit.edu	37	11	111779603	111779603	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:111779603G>A	ENST00000533475.1	-	4	862	c.413C>T	c.(412-414)tCa>tTa	p.S138L	CRYAB_ENST00000533280.1_Missense_Mutation_p.S71L|CRYAB_ENST00000527950.1_Missense_Mutation_p.S138L|CRYAB_ENST00000531198.1_Missense_Mutation_p.S138L|CRYAB_ENST00000227251.3_Missense_Mutation_p.S138L|CRYAB_ENST00000526180.1_Missense_Mutation_p.S138L|CRYAB_ENST00000525823.1_Missense_Mutation_p.S71L	NM_001885.1	NP_001876.1	P02511	CRYAB_HUMAN	crystallin, alpha B	138					anti-apoptosis|muscle contraction|negative regulation of intracellular transport|protein folding|protein homooligomerization|response to heat	cytoplasm|nucleus	protein homodimerization activity|structural constituent of eye lens|unfolded protein binding	p.S138L(1)		endometrium(1)|large_intestine(1)|lung(2)|skin(4)	8		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		CCCATCAGATGACAGGGATGA	0.527000													6	64					0	0	0.001168	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57872492	57872492	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:57872492G>T	ENST00000393797.2	-	6	770	c.578C>A	c.(577-579)cCa>cAa	p.P193Q	ARHGAP9_ENST00000393791.3_Missense_Mutation_p.P122Q|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.P122Q|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.P201Q|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.P122Q			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	122					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.P122Q(1)		endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			AGCCCTGCTTGGGAGGGCCTG	0.577000													9	95					3.86212e-05	4.81586e-05	0.008291	1	0
LRCH4	4034	broad.mit.edu	37	7	100174741	100174741	+	Silent	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:100174741C>A	ENST00000310300.6	-	12	1384	c.1332G>T	c.(1330-1332)ggG>ggT	p.G444G	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	444					nervous system development	PML body	protein binding	p.G444G(1)		NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGGCGGCGGCCCCTCCCACAA	0.617000													8	50					0.000442599	0.000511634	0.006214	1	0
SMO	6608	broad.mit.edu	37	7	128846155	128846155	+	Missense_Mutation	SNP	T	T	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:128846155T>G	ENST00000249373.3	+	5	1365	c.1085T>G	c.(1084-1086)cTg>cGg	p.L362R		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled family receptor	362					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.L362R(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TACTTCCACCTGCTCACCTGG	0.572000			Mis		skin basal cell								34	100					0	0	0.013726	0	0
HMGXB4	10042	broad.mit.edu	37	22	35661015	35661015	+	Nonsense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr22:35661015C>T	ENST00000216106.5	+	5	762	c.634C>T	c.(634-636)Caa>Taa	p.Q212*	HMGXB4_ENST00000444518.2_Nonsense_Mutation_p.Q103*	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	212					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding	p.Q212*(1)		breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGAGTCTTTTCAATATCCCTC	0.453000													18	236					0	0	0.007413	0	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42139582	42139582	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr15:42139582C>A	ENST00000382448.4	+	24	2697	c.2688C>A	c.(2686-2688)ttC>ttA	p.F896L	JMJD7-PLA2G4B_ENST00000342159.4_Intron|PLA2G4B_ENST00000452633.1_Missense_Mutation_p.F665L|JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.F665L	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		665					arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	p.F896L(1)		endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						GGATCCCGTTCCCACCCATCT	0.682000													10	104					2.17888e-05	2.77724e-05	0.006214	1	0
DCAF12	25853	broad.mit.edu	37	9	34126386	34126386	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr9:34126386G>A	ENST00000361264.4	-	1	385	c.44C>T	c.(43-45)tCg>tTg	p.S15L		NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	15						centrosome|CUL4 RING ubiquitin ligase complex		p.S15L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						AGCTCCCGGCGAGGCGGGCGC	0.692000													4	29					0	0	0.000602	0	0
ZZZ3	26009	broad.mit.edu	37	1	78098439	78098439	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:78098439C>A	ENST00000370801.3	-	5	1076	c.601G>T	c.(601-603)Gct>Tct	p.A201S	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	201					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A201S(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CCATTGACAGCCAAATAGCCT	0.393000													23	112					3.83957e-06	5.15119e-06	0.002780	1	0
HIPK3	10114	broad.mit.edu	37	11	33308507	33308507	+	Nonsense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:33308507C>T	ENST00000303296.4	+	2	852	c.547C>T	c.(547-549)Cag>Tag	p.Q183*	HIPK3_ENST00000456517.1_Nonsense_Mutation_p.Q183*|HIPK3_ENST00000525975.1_Nonsense_Mutation_p.Q183*|HIPK3_ENST00000379016.3_Nonsense_Mutation_p.Q183*	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	183					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	p.Q183*(1)		endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						AGGTGACTATCAGTTAGTACA	0.428000													10	65					0	0	0.006214	0	0
PRDM14	63978	broad.mit.edu	37	8	70978624	70978624	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:70978624C>A	ENST00000276594.2	-	5	1230	c.1029G>T	c.(1027-1029)caG>caT	p.Q343H		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	343	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q343H(1)		NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GCCCTTGACACTGCACAGCAA	0.458000													18	96					0.00074312	0.000853659	0.006122	1	0
REEP6	92840	broad.mit.edu	37	19	1495329	1495329	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:1495329G>T	ENST00000233596.3	+	2	256	c.152G>T	c.(151-153)gGc>gTc	p.G51V		NM_138393.1	NP_612402.1	Q96HR9	REEP6_HUMAN	receptor accessory protein 6	51						integral to membrane		p.G51V(1)|p.R118R(1)		lung(1)|ovary(1)	2		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		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)		CTGCTGTTCGGCTACGGAGCG	0.652000													13	52					2.35188e-11	3.65716e-11	0.006122	1	0
NLRP3	114548	broad.mit.edu	37	1	247588857	247588857	+	Silent	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:247588857G>C	ENST00000366497.2	+	4	2892	c.2112G>C	c.(2110-2112)gtG>gtC	p.V704V	NLRP3_ENST00000336119.3_Silent_p.V704V|NLRP3_ENST00000391828.3_Silent_p.V704V|NLRP3_ENST00000348069.2_Silent_p.V704V|NLRP3_ENST00000391827.2_Silent_p.V704V|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Silent_p.V704V	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	704					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.V704V(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TTGATATGGTGCAGTGTGTCC	0.547000													3	40					0	0	0.000602	0	0
SLC6A11	6538	broad.mit.edu	37	3	10885924	10885924	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:10885924G>A	ENST00000254488.2	+	5	715	c.649G>A	c.(649-651)Ggg>Agg	p.G217R		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	217					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.G217R(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		CATCTCTGACGGGATCGAGCA	0.592000													9	54					0	0	0.008291	0	0
CD19	930	broad.mit.edu	37	16	28948594	28948594	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:28948594C>A	ENST00000538922.1	+	9	1263	c.1201C>A	c.(1201-1203)Cca>Aca	p.P401T	CD19_ENST00000324662.3_Missense_Mutation_p.P401T|CD19_ENST00000567541.1_Missense_Mutation_p.P401T	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN	CD19 molecule	401					cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity	p.P401T(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						ACCCCCAGGCCCAGAAGAAGA	0.617000													6	12					0.00116845	0.00132079	0.001168	1	0
IQSEC3	440073	broad.mit.edu	37	12	272696	272696	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:272696A>G	ENST00000538872.1	+	9	2738	c.2620A>G	c.(2620-2622)Agc>Ggc	p.S874G	IQSEC3_ENST00000382841.2_Missense_Mutation_p.S571G|IQSEC3_ENST00000326261.4_Missense_Mutation_p.S874G			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	874	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	p.S571G(1)|p.S874G(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GGTGTGCTGCAGCCGGCTCTT	0.672000													18	61					0	0	0.008871	0	0
RIMS1	22999	broad.mit.edu	37	6	72947557	72947557	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:72947557G>T	ENST00000264839.7	+	9	1889	c.1889G>T	c.(1888-1890)cGa>cTa	p.R630L	RIMS1_ENST00000401910.3_Missense_Mutation_p.R104L|RIMS1_ENST00000491071.2_Missense_Mutation_p.R630L|RIMS1_ENST00000521978.1_Missense_Mutation_p.R630L|RIMS1_ENST00000522291.1_Missense_Mutation_p.R630L|RIMS1_ENST00000520567.1_Missense_Mutation_p.R630L|RIMS1_ENST00000425662.2_Missense_Mutation_p.R23L|RIMS1_ENST00000523963.1_Missense_Mutation_p.R104L|RIMS1_ENST00000348717.5_Missense_Mutation_p.R630L|RIMS1_ENST00000517960.1_Missense_Mutation_p.R630L|RIMS1_ENST00000517827.1_Missense_Mutation_p.R89L|RIMS1_ENST00000518273.1_Missense_Mutation_p.R630L			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	630	PDZ.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.R630L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GACTTAGGACGACTTGGTGCT	0.343000													6	45					8.12818e-05	9.85462e-05	0.001984	1	0
TTC14	151613	broad.mit.edu	37	3	180322022	180322022	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:180322022C>T	ENST00000412756.2	+	4	565	c.496C>T	c.(496-498)Ccc>Tcc	p.P166S	TTC14_ENST00000296015.4_Missense_Mutation_p.P166S|TTC14_ENST00000382584.4_Missense_Mutation_p.P166S	NM_001042601.2	NP_001036066.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	166	S1 motif.						RNA binding	p.P166S(1)		endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GGCTCTTTGTCCCTTAAGAGA	0.358000													10	75					0	0	0.008291	0	0
GALNT16	57452	broad.mit.edu	37	14	69787507	69787507	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:69787507A>G	ENST00000337827.4	+	2	584	c.257A>G	c.(256-258)tAc>tGc	p.Y86C	GALNT16_ENST00000553669.1_Missense_Mutation_p.Y86C|GALNT16_ENST00000448469.3_Missense_Mutation_p.Y86C	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16									p.Y86C(1)									GAGGACCCCTACAGACAGCAC	0.587000													5	62					0	0	0.000602	0	0
OR2T12	127064	broad.mit.edu	37	1	248458109	248458109	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:248458109T>A	ENST00000317996.1	-	1	771	c.772A>T	c.(772-774)Atg>Ttg	p.M258L		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	p.M258L(1)		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)			TTGGGTCTCATATAGGTAAAA	0.488000													9	103					0	0	0.004482	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580429	140580429	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:140580429C>A	ENST00000354757.3	+	1	1082	c.1082C>A	c.(1081-1083)cCa>cAa	p.P361Q	PCDHB11_ENST00000536699.1_5'UTR	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		361	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.P361E(1)		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)			GAAAATACGCCAGAGACCGTG	0.403000													18	130					3.70931e-20	6.3127e-20	0.006122	1	0
KCNA4	3739	broad.mit.edu	37	11	30032746	30032746	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:30032746T>A	ENST00000328224.6	-	2	2713	c.1480A>T	c.(1480-1482)Agt>Tgt	p.S494C		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	494						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.S494C(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TACACAGCACTAGAAAAGAGG	0.527000													9	34					0	0	0.006214	0	0
OLFM1	10439	broad.mit.edu	37	9	137998651	137998651	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr9:137998651A>T	ENST00000252854.4	+	5	866	c.679A>T	c.(679-681)Agg>Tgg	p.R227W	OLFM1_ENST00000371796.3_Missense_Mutation_p.R218W|OLFM1_ENST00000371793.3_Missense_Mutation_p.R245W	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN	olfactomedin 1	245	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding	p.R227W(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CTCCGGCTCGAGGTTCGGATC	0.627000													5	16					0	0	0.000602	0	0
UBD	10537	broad.mit.edu	37	6	29523866	29523866	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:29523866C>G	ENST00000377050.4	-	2	512	c.289G>C	c.(289-291)Gat>Cat	p.D97H	GABBR1_ENST00000355973.3_3'UTR	NM_006398.3	NP_006389.2	O15205	UBD_HUMAN	ubiquitin D	97	Ubiquitin 2.				aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding	p.D97H(1)		kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						TTTGCCTCATCACCTGACTCC	0.512000													9	32					0	0	0.006214	0	0
TARBP1	6894	broad.mit.edu	37	1	234584263	234584263	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:234584263G>C	ENST00000040877.1	-	11	1923	c.1924C>G	c.(1924-1926)Ctg>Gtg	p.L642V		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	642					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	p.L642V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TCCACAGCCAGCAAGACCATC	0.368000													8	49					0	0	0.006214	0	0
GAR1	54433	broad.mit.edu	37	4	110743587	110743587	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:110743587G>T	ENST00000226796.6	+	5	778	c.514G>T	c.(514-516)Ggc>Tgc	p.G172C	GAR1_ENST00000394631.3_Missense_Mutation_p.G172C	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN	GAR1 ribonucleoprotein	172	RGG-box 2.				rRNA processing|snRNA pseudouridine synthesis	box H/ACA snoRNP complex|Cajal body	cation channel activity|pseudouridine synthase activity|snoRNA binding	p.G172C(1)		kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						aagaggtggtggcaggggagg	0.493000													6	46					3.59834e-05	4.52376e-05	0.001168	1	0
RELN	5649	broad.mit.edu	37	7	103194238	103194238	+	Silent	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:103194238G>T	ENST00000424685.2	-	39	5997	c.5838C>A	c.(5836-5838)atC>atA	p.I1946I	RELN_ENST00000428762.1_Silent_p.I1946I|RELN_ENST00000343529.5_Silent_p.I1946I			P78509	RELN_HUMAN	reelin	1946					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.I1946I(2)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TATTTCCATCGATAATGAAGT	0.363000													15	66					2.32078e-09	3.46797e-09	0.003163	1	0
TEK	7010	broad.mit.edu	37	9	27183579	27183579	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr9:27183579C>A	ENST00000380036.4	+	8	1595	c.1153C>A	c.(1153-1155)Ctg>Atg	p.L385M	TEK_ENST00000519097.1_Missense_Mutation_p.L238M|TEK_ENST00000406359.4_Missense_Mutation_p.L342M	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	385	Ig-like C2-type 2.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.L385M(1)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		AGAAATGACCCTGGTGAAGCC	0.428000													35	174					8.73648e-17	1.44925e-16	0.004289	1	0
C20orf196	149840	broad.mit.edu	37	20	5843764	5843764	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr20:5843764G>T	ENST00000303142.6	+	3	360	c.273G>T	c.(271-273)gaG>gaT	p.E91D		NM_152504.2	NP_689717.2	Q8IYI0	CT196_HUMAN	chromosome 20 open reading frame 196	91								p.E91D(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						AGAAGGAAGAGGATGATGGCC	0.473000													8	43					5.18039e-06	6.90969e-06	0.003080	1	0
NDUFS2	4720	broad.mit.edu	37	1	161180475	161180475	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:161180475G>T	ENST00000392179.4	+	9	1200	c.961G>T	c.(961-963)Ggt>Tgt	p.G321C	NDUFS2_ENST00000367993.3_Missense_Mutation_p.G321C|NDUFS2_ENST00000476409.2_Missense_Mutation_p.G223C|NDUFS2_ENST00000465923.1_3'UTR	NM_001166159.1	NP_001159631.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	321					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding	p.G321C(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		NADH(DB00157)	TGTTCCTGTTGGTTCTCGAGG	0.527000													7	38					8.12818e-05	9.85462e-05	0.001984	1	0
PCCA	5095	broad.mit.edu	37	13	100925576	100925576	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr13:100925576C>G	ENST00000376285.1	+	12	1079	c.1041C>G	c.(1039-1041)ttC>ttG	p.F347L	PCCA_ENST00000376286.4_Missense_Mutation_p.F321L|PCCA_ENST00000376279.3_Missense_Mutation_p.F347L	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	347	ATP-grasp.|Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity	p.F347L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	ATTTTTATTTCTTGGAAATGA	0.413000													8	39					0	0	0.004482	0	0
TRPM8	79054	broad.mit.edu	37	2	234878914	234878914	+	Silent	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:234878914C>A	ENST00000324695.4	+	17	2239	c.2199C>A	c.(2197-2199)tcC>tcA	p.S733S	TRPM8_ENST00000433712.2_Intron	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	733						integral to membrane		p.S733S(1)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TCTTCACCTCCCCCTTCGTGG	0.537000													45	304					1.03325e-14	1.69866e-14	0.011902	1	0
LPAR4	2846	broad.mit.edu	37	X	78011436	78011436	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:78011436C>A	ENST00000435339.2	+	2	1475	c.1070C>A	c.(1069-1071)aCa>aAa	p.T357K	LPAR4_ENST00000373301.2_Missense_Mutation_p.T357K	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	357						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	p.T357K(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						AGTGATCAAACAACAAATAAT	0.393000													15	82					6.31663e-08	9.01394e-08	0.003163	1	0
CYP27B1	1594	broad.mit.edu	37	12	58158802	58158802	+	Missense_Mutation	SNP	A	A	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:58158802A>C	ENST00000228606.4	-	4	991	c.782T>G	c.(781-783)tTt>tGt	p.F261C	RP11-571M6.13_ENST00000546609.1_RNA	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	261					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding	p.F261C(1)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	ACCAAATGCAAACATCTGGTC	0.602000											OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	114					0	0	0.004007	0	0
NBEAL2	23218	broad.mit.edu	37	3	47044463	47044463	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:47044463C>T	ENST00000450053.3	+	34	5655	c.5476C>T	c.(5476-5478)Cgc>Tgc	p.R1826C	NBEAL2_ENST00000383740.2_Missense_Mutation_p.R105C|NBEAL2_ENST00000292309.5_Missense_Mutation_p.R1642C	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1826							binding	p.R1203C(1)|p.R1826C(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TCCCATCCCCCGCTGGAAACT	0.612000													4	18					0	0	0.000602	0	0
AGAP1	116987	broad.mit.edu	37	2	236957737	236957737	+	Silent	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:236957737C>T	ENST00000409538.1	+	15	3058	c.2562C>T	c.(2560-2562)ctC>ctT	p.L854L	AGAP1_ENST00000428334.2_Silent_p.L481L|AGAP1_ENST00000304032.7_Silent_p.L642L|AGAP1_ENST00000336665.5_Silent_p.L589L			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	642			P -> T (in a family with an autistic patient).		protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	p.L642L(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TGGGAGCCCTCATGTGCATCG	0.537000													6	84					0	0	0.001984	0	0
EPHA6	285220	broad.mit.edu	37	3	97167434	97167434	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:97167434C>A	ENST00000389672.5	+	7	1792	c.1754C>A	c.(1753-1755)tCt>tAt	p.S585Y	EPHA6_ENST00000502694.1_5'UTR|EPHA6_ENST00000442602.2_5'UTR|EPHA6_ENST00000514100.1_5'UTR	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	490						integral to plasma membrane	ATP binding|ephrin receptor activity	p.S491Y(2)|p.S585Y(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CTGACCTACTCTTCCACAAGG	0.438000													10	78					1.58986e-06	2.16778e-06	0.008291	1	0
APPBP2	10513	broad.mit.edu	37	17	58524943	58524943	+	Silent	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:58524943C>T	ENST00000083182.3	-	13	2044	c.1757G>A	c.(1756-1758)tGa>tAa	p.*586*		NM_006380.2	NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	0					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding	p.*586*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			GGTCCTCCCTCAGCAGCTCGG	0.493000													31	179					0	0	0.010818	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					4	70					0	0	0.001984	0	0
UGT3A2	167127	broad.mit.edu	37	5	36052050	36052050	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:36052050C>A	ENST00000282507.3	-	3	334	c.233G>T	c.(232-234)aGt>aTt	p.S78I	UGT3A2_ENST00000545528.1_5'UTR|UGT3A2_ENST00000513300.1_Missense_Mutation_p.S44I|UGT3A2_ENST00000504954.1_5'UTR	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	78						integral to membrane	glucuronosyltransferase activity	p.S78I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGCAAGCCAACTGATAACTTG	0.294000													4	50					0.000602214	0.000694398	0.000602	1	0
SLC4A4	8671	broad.mit.edu	37	4	72121090	72121090	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:72121090C>T	ENST00000425175.1	+	3	344	c.227C>T	c.(226-228)tCc>tTc	p.S76F	SLC4A4_ENST00000351898.6_Missense_Mutation_p.S76F|SLC4A4_ENST00000264485.5_Missense_Mutation_p.S76F|SLC4A4_ENST00000514331.1_3'UTR	NM_001134742.1	NP_001128214.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	76						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	p.S76F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GCTGATGAATCCAGCAGCAGC	0.443000													16	121					0	0	0.004007	0	0
CDH18	1016	broad.mit.edu	37	5	19838999	19838999	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:19838999C>A	ENST00000507958.1	-	5	1087	c.97G>T	c.(97-99)Gtg>Ttg	p.V33L	CDH18_ENST00000502796.1_Missense_Mutation_p.V33L|CDH18_ENST00000511273.1_Missense_Mutation_p.V33L|CDH18_ENST00000382275.1_Missense_Mutation_p.V33L|CDH18_ENST00000506372.1_Missense_Mutation_p.V33L|CDH18_ENST00000274170.4_Missense_Mutation_p.V33L			Q13634	CAD18_HUMAN	cadherin 18, type 2	33					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V33L(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TTTCTCATCACCTTGATGGAG	0.428000													10	67					3.86212e-05	4.81586e-05	0.008291	1	0
GPR148	344561	broad.mit.edu	37	2	131487629	131487629	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:131487629C>A	ENST00000309926.4	+	1	987	c.905C>A	c.(904-906)gCa>gAa	p.A302E		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	302						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A302E(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					TGGCTCCTGGCAGCTAACAGT	0.582000													11	64					0.00010058	0.000121303	0.013537	1	0
PRSS53	339105	broad.mit.edu	37	16	31095549	31095549	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:31095549G>A	ENST00000280606.6	-	10	1686	c.1533C>T	c.(1531-1533)ttC>ttT	p.F511F		NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN	protease, serine, 53	511	Peptidase S1 2.				proteolysis	extracellular region	serine-type endopeptidase activity	p.F511F(1)		large_intestine(1)|lung(3)	4						GGAGCGCGGTGAAGACCGCCG	0.662000													4	17					0	0	0.009096	0	0
ANK1	286	broad.mit.edu	37	8	41572557	41572557	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:41572557G>A	ENST00000396942.1	-	15	1721	c.1638C>T	c.(1636-1638)taC>taT	p.Y546Y	ANK1_ENST00000352337.4_Silent_p.Y546Y|ANK1_ENST00000396945.1_Silent_p.Y546Y|ANK1_ENST00000379758.2_Silent_p.Y546Y|ANK1_ENST00000347528.4_Silent_p.Y546Y|ANK1_ENST00000289734.7_Silent_p.Y546Y|ANK1_ENST00000265709.8_Silent_p.Y579Y			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	546	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.Y546Y(1)|p.Y579Y(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCACCTTCCCGTACTTGGCCG	0.632000													7	76					0	0	0.006214	0	0
PCLO	27445	broad.mit.edu	37	7	82544191	82544191	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:82544191T>A	ENST00000423517.2	-	7	13448	c.13111A>T	c.(13111-13113)Atg>Ttg	p.M4371L	PCLO_ENST00000437081.1_Missense_Mutation_p.M1091L|PCLO_ENST00000333891.8_Missense_Mutation_p.M4371L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4302					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.M4371L(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCCATTCCCATTGGCTGGCCA	0.507000													7	64					0	0	0.003080	0	0
PLD1	5337	broad.mit.edu	37	3	171395355	171395355	+	Splice_Site	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:171395355C>T	ENST00000356327.5	-	16	1953		c.e16+1		PLD1_ENST00000340989.4_Splice_Site|PLD1_ENST00000342215.6_Splice_Site|PLD1_ENST00000351298.4_Splice_Site	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific						cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	p.?(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ATGATACTCACCAGCAAAAGG	0.418000													17	143					0	0	0.014323	0	0
CDH18	1016	broad.mit.edu	37	5	19473707	19473707	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:19473707G>T	ENST00000507958.1	-	15	2991	c.2001C>A	c.(1999-2001)gaC>gaA	p.D667E	CDH18_ENST00000502796.1_3'UTR|CDH18_ENST00000382275.1_Missense_Mutation_p.D667E|CDH18_ENST00000506372.1_3'UTR|CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000274170.4_Missense_Mutation_p.D667E			Q13634	CAD18_HUMAN	cadherin 18, type 2	667					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D667E(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AGGCCTCTGTGTCTTCCTCTC	0.522000													36	165					4.90274e-10	7.45963e-10	0.006230	1	0
ARL13B	200894	broad.mit.edu	37	3	93761927	93761927	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:93761927G>A	ENST00000535334.1	+	6	1081	c.558G>A	c.(556-558)ctG>ctA	p.L186L	ARL13B_ENST00000471138.1_Silent_p.L289L|ARL13B_ENST00000394222.3_Silent_p.L289L|ARL13B_ENST00000539730.1_Silent_p.L10L|ARL13B_ENST00000303097.7_Silent_p.L182L	NM_001174151.1	NP_001167622.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	289							GTP binding	p.L182L(1)|p.L289L(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						GCTGCCACCTGAAACATAAAA	0.323000													6	24					0	0	0.001984	0	0
MYOM2	9172	broad.mit.edu	37	8	2092729	2092729	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:2092729G>T	ENST00000262113.4	+	37	4363	c.4222G>T	c.(4222-4224)Gtg>Ttg	p.V1408L	MYOM2_ENST00000523438.1_Missense_Mutation_p.V833L|MYOM2_ENST00000520298.1_3'UTR	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1408	Ig-like C2-type 5.				muscle contraction	myosin filament	structural constituent of muscle	p.V1408M(1)|p.V1408L(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CATCAAAGGCGTGACCTCCGA	0.532000													9	40					2.17888e-05	2.77724e-05	0.006214	1	0
CNTNAP2	26047	broad.mit.edu	37	7	147869430	147869430	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:147869430C>G	ENST00000361727.3	+	18	3386	c.2870C>G	c.(2869-2871)tCt>tGt	p.S957C	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.S16C	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	957	Laminin G-like 3.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.S957C(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AAGGTCACATCTGGGTTCATA	0.552000										HNSCC(39;0.1)			11	71					0	0	0.008291	0	0
CHD3	1107	broad.mit.edu	37	17	7797526	7797526	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:7797526G>T	ENST00000380358.4	+	7	1196	c.1195G>T	c.(1195-1197)Ggc>Tgc	p.G399C	CHD3_ENST00000358181.4_Missense_Mutation_p.G340C|CHD3_ENST00000330494.7_Missense_Mutation_p.G340C	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	340					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	p.G340C(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CCGGCCTGATGGCCCTGTCCG	0.567000													7	19					8.12818e-05	9.85462e-05	0.001984	1	0
SIGLEC9	27180	broad.mit.edu	37	19	51629379	51629379	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:51629379G>A	ENST00000440804.3	+	3	809	c.742G>A	c.(742-744)Ggc>Agc	p.G248S	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.G248S	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	248	Ig-like C2-type 2.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	p.G248S(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CCAAGGAGACGGCACAGGTAG	0.592000													4	63					0	0	0.000602	0	0
TGDS	23483	broad.mit.edu	37	13	95231010	95231010	+	Silent	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr13:95231010T>A	ENST00000261296.5	-	8	753	c.633A>T	c.(631-633)atA>atT	p.I211I	TGDS_ENST00000498294.1_5'UTR	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	211					cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding	p.I211I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					GTAGCAAAGATATAAATTTTG	0.269000													7	56					0	0	0.003080	0	0
CSPG4	1464	broad.mit.edu	37	15	75974658	75974658	+	Silent	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr15:75974658G>T	ENST00000308508.5	-	8	5018	c.4926C>A	c.(4924-4926)gcC>gcA	p.A1642A		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1642	Cysteine-containing.|Neurite growth inhibition (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	p.A1642A(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						AGTTCACCAGGGCCTCCCCTG	0.662000													5	73					1.06961e-07	1.51694e-07	0.003080	1	0
DCAF12L2	340578	broad.mit.edu	37	X	125298989	125298989	+	Silent	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:125298989G>T	ENST00000538699.1	-	2	999	c.919C>A	c.(919-921)Cga>Aga	p.R307R	DCAF12L2_ENST00000360028.2_Silent_p.R307R	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	307								p.R307R(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						ACATTCTCTCGGCAGTAGGGC	0.607000													26	140					1.7881e-09	2.67633e-09	0.008361	1	0
STAP1	26228	broad.mit.edu	37	4	68449311	68449311	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:68449311C>G	ENST00000265404.2	+	6	632	c.550C>G	c.(550-552)Cgg>Ggg	p.R184G	STAP1_ENST00000396225.1_Missense_Mutation_p.R184G	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	184	SH2.				cellular membrane fusion|intracellular protein transport	cytoplasm		p.R184G(1)		NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						TACAGTGTCCCGGAAAGAGGC	0.373000													5	31					0	0	0.001984	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962057	73962057	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:73962057C>A	ENST00000373468.1	-	3	2986	c.2335G>T	c.(2335-2337)Gca>Tca	p.A779S	KIAA2022_ENST00000055682.5_Missense_Mutation_p.A779S			Q5QGS0	K2022_HUMAN	KIAA2022	779					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.A779S(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GCAGCCTTTGCCTCATGAAAT	0.408000													22	101					1.22574e-08	1.78802e-08	0.014323	1	0
CD163L1	283316	broad.mit.edu	37	12	7548878	7548878	+	Nonsense_Mutation	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:7548878A>T	ENST00000313599.3	-	8	1920	c.1863T>A	c.(1861-1863)tgT>tgA	p.C621*	CD163L1_ENST00000396630.1_Nonsense_Mutation_p.C621*|CD163L1_ENST00000416109.2_Nonsense_Mutation_p.C631*			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	621	SRCR 6.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.C621*(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCAGCTGGCTACACACCACAG	0.527000													11	23					0	0	0.010729	0	0
PCDH15	65217	broad.mit.edu	37	10	55568824	55568824	+	Silent	SNP	T	T	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr10:55568824T>G	ENST00000395445.1	-	36	5380	c.4986A>C	c.(4984-4986)gcA>gcC	p.A1662A	PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395442.1_Silent_p.A527A|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000395440.1_Silent_p.A596A|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395446.1_Silent_p.A858A	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCCTTCTTCTTGCAAGCACAA	0.463000										HNSCC(58;0.16)			7	19					0	0	0.001984	0	0
ST18	9705	broad.mit.edu	37	8	53045828	53045828	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:53045828G>T	ENST00000276480.7	-	20	3017	c.2334C>A	c.(2332-2334)caC>caA	p.H778Q		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	778						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H778Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TTCCAGTCACGTGCCCCGAGC	0.517000													8	66					4.68919e-08	6.74392e-08	0.008291	1	0
DYNC2H1	79659	broad.mit.edu	37	11	103057207	103057207	+	Silent	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:103057207A>T	ENST00000375735.2	+	42	7014	c.6870A>T	c.(6868-6870)gtA>gtT	p.V2290V	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.V2290V	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2290	AAA 3 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTATTCTGGTAGGACCAGAAG	0.393000													4	19					0	0	0.009096	0	0
PABPC1L	80336	broad.mit.edu	37	20	43559182	43559182	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr20:43559182G>C	ENST00000255136.3	+	8	1136	c.1054G>C	c.(1054-1056)Gag>Cag	p.E352Q	PABPC1L_ENST00000217073.2_Missense_Mutation_p.E352Q|PABPC1L_ENST00000490798.1_3'UTR|PABPC1L_ENST00000537323.1_3'UTR|PABPC1L_ENST00000217074.4_3'UTR	NM_001124756.1	NP_001118228.1	Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	352	RRM 4.						nucleotide binding|RNA binding	p.E352Q(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						GGCCGTGACAGAGATGAACGG	0.567000													35	208					0	0	0.003271	0	0
GABRG1	2565	broad.mit.edu	37	4	46053639	46053639	+	Silent	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:46053639C>A	ENST00000295452.4	-	8	1100	c.933G>T	c.(931-933)ctG>ctT	p.L311L		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	311					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.L311L(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TTGTCATAGTCAGAACTGTAG	0.353000													4	37					1.23904e-05	1.59927e-05	0.000602	1	0
CPD	1362	broad.mit.edu	37	17	28773009	28773009	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:28773009G>A	ENST00000225719.4	+	12	2920	c.2844G>A	c.(2842-2844)atG>atA	p.M948I	CPD_ENST00000543464.2_Missense_Mutation_p.M701I	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	948	Carboxypeptidase-like 3.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	p.M948I(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						GACTTGTAATGAACTATCCAC	0.363000													14	90					0	0	0.003163	0	0
LEF1	51176	broad.mit.edu	37	4	109086290	109086290	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:109086290C>G	ENST00000379951.2	-	2	1431	c.243G>C	c.(241-243)gaG>gaC	p.E81D	LEF1_ENST00000438313.2_Missense_Mutation_p.E81D|LEF1_ENST00000265165.1_Missense_Mutation_p.E81D|LEF1_ENST00000512172.1_Missense_Mutation_p.E13D|LEF1_ENST00000510624.1_Missense_Mutation_p.E13D	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	81	Pro-rich.				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding	p.E81D(1)|p.E13D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		CGTGGTAGGGCTCCTGAGAGG	0.443000													6	90					0	0	0.001984	0	0
ARSA	410	broad.mit.edu	37	22	51065369	51065369	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr22:51065369G>C	ENST00000547307.1	-	3	976	c.571C>G	c.(571-573)Ccc>Gcc	p.P191A	ARSA_ENST00000395619.3_Missense_Mutation_p.P193A|ARSA_ENST00000356098.5_Missense_Mutation_p.P193A|ARSA_ENST00000453344.2_Missense_Mutation_p.P107A|ARSA_ENST00000547805.1_Missense_Mutation_p.P191A|ARSA_ENST00000216124.5_Missense_Mutation_p.P193A|ARSA_ENST00000395621.3_Missense_Mutation_p.P193A			P15289	ARSA_HUMAN	arylsulfatase A	191			P -> T (in MLD; juvenile-onset).			lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity	p.P191A(1)		endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	AGCCAGGGGGGCTGCGCCTCC	0.672000													4	72					0	0	0.009096	0	0
LHFPL3	375612	broad.mit.edu	37	7	103969375	103969375	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:103969375G>A	ENST00000535008.1	+	1	272	c.148G>A	c.(148-150)Gtc>Atc	p.V50I	LHFPL3_ENST00000424859.1_Missense_Mutation_p.V36I|LHFPL3_ENST00000543266.1_Missense_Mutation_p.V50I|LHFPL3_ENST00000401970.2_Missense_Mutation_p.V36I			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	36						integral to membrane		p.V50I(1)		kidney(1)|large_intestine(2)|lung(6)	9						CTTTGCCATCGTCAACGTGGT	0.617000													5	42					0	0	0.000602	0	0
PLXND1	23129	broad.mit.edu	37	3	129284183	129284183	+	Splice_Site	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:129284183C>A	ENST00000393239.1	-	25	4699	c.4521_splice	c.e25+1	p.R1507_splice	PLXND1_ENST00000324093.4_Splice_Site_p.R1507_splice			Q9Y4D7	PLXD1_HUMAN	plexin D1	1507					axon guidance	integral to membrane|intracellular|plasma membrane		p.R1507R(1)	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						GCAGCCTCACCCGCAGACAGC	0.657000													6	45					5.9392e-07	8.26989e-07	0.001168	1	0
OR8I2	120586	broad.mit.edu	37	11	55860792	55860792	+	Silent	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:55860792C>A	ENST00000302124.2	+	1	40	c.9C>A	c.(7-9)ggC>ggA	p.G3G	OR8I2_ENST00000560768.1_Silent_p.G3G			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G3G(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					AAATGGCTGGCAACAATTTCA	0.368000													9	106					0.000274275	0.000319872	0.004482	1	0
TRPC1	7220	broad.mit.edu	37	3	142524944	142524944	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:142524944T>C	ENST00000273482.6	+	12	2538	c.2147T>C	c.(2146-2148)aTg>aCg	p.M716T	TRPC1_ENST00000476941.1_Missense_Mutation_p.M750T	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	750					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	p.M716T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						AGACAGAAGATGCAAAGTACA	0.398000													9	57					0	0	0.004482	0	0
OR4P4	81300	broad.mit.edu	37	11	55405905	55405905	+	Silent	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:55405905C>T	ENST00000314612.2	+	1	72	c.72C>T	c.(70-72)ctC>ctT	p.L24L		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L24L(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TTGAAGTCCTCTGCTTTGTAT	0.358000													27	46					0	0	0.003954	0	0
IQCA1	79781	broad.mit.edu	37	2	237272522	237272522	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:237272522G>A	ENST00000409907.3	-	15	2044	c.1770C>T	c.(1768-1770)acC>acT	p.T590T	IQCA1_ENST00000309507.5_Silent_p.T587T|IQCA1_ENST00000431676.2_Silent_p.T549T			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	590							ATP binding	p.T590T(1)|p.T598T(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						CTCCCGTTTCGGTGCAGATGG	0.517000													6	111					0	0	0.001168	0	0
ANO2	57101	broad.mit.edu	37	12	5724394	5724394	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:5724394T>C	ENST00000356134.5	-	19	1960	c.1889A>G	c.(1888-1890)aAt>aGt	p.N630S	ANO2_ENST00000327087.8_Missense_Mutation_p.N629S|ANO2_ENST00000546188.1_Missense_Mutation_p.N630S	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	634						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	p.N630S(1)|p.N629S(1)		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						GGAGTAGGCATTGACAAACTT	0.448000													3	42					0	0	0.004672	0	0
SYMPK	8189	broad.mit.edu	37	19	46355787	46355787	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:46355787C>T	ENST00000245934.7	-	4	422	c.178G>A	c.(178-180)Gag>Aag	p.E60K		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	60	Interaction with HSF1.				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	p.E60K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		ATGATCAGCTCCTGGACCTGG	0.532000													24	54					0	0	0.005443	0	0
GFRAL	389400	broad.mit.edu	37	6	55198740	55198740	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:55198740C>T	ENST00000340465.2	+	3	400	c.314C>T	c.(313-315)tCa>tTa	p.S105L		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	105						integral to membrane	receptor activity	p.S105L(1)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATCAATAAATCAGGTAATATT	0.269000													9	63					0	0	0.013537	0	0
DENND5B	160518	broad.mit.edu	37	12	31632962	31632962	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:31632962C>A	ENST00000389082.5	-	3	729	c.465G>T	c.(463-465)atG>atT	p.M155I	DENND5B_ENST00000306833.6_Missense_Mutation_p.M190I|DENND5B_ENST00000536562.1_Missense_Mutation_p.M190I|DENND5B_ENST00000354285.4_Missense_Mutation_p.M177I|DENND5B_ENST00000545147.1_Intron	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	155						integral to membrane		p.M155I(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CCAATGAGTCCATACTGCAGG	0.423000													13	86					1.49906e-05	1.92946e-05	0.002450	1	0
PRAMEF11	440560	broad.mit.edu	37	1	12884901	12884901	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:12884901G>C	ENST00000535591.1	-	4	1405	c.1210C>G	c.(1210-1212)Cac>Gac	p.H404D		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	404								p.H404Y(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TGCCTTAAGTGCCTCACTTTC	0.502000													9	239					0	0	0.001855	0	0
UVRAG	7405	broad.mit.edu	37	11	75727892	75727892	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:75727892G>T	ENST00000356136.3	+	12	1335	c.1094G>T	c.(1093-1095)gGt>gTt	p.G365V	UVRAG_ENST00000539288.1_5'UTR|UVRAG_ENST00000528420.1_Missense_Mutation_p.G264V|UVRAG_ENST00000532130.1_5'UTR|UVRAG_ENST00000533454.1_5'UTR|UVRAG_ENST00000531818.1_5'UTR	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	365					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	p.G365V(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						GTTGCCCTTGGTTATACTGCA	0.343000													11	111					7.93312e-07	1.08652e-06	0.002450	1	0
SLC8A1	6546	broad.mit.edu	37	2	40655828	40655828	+	Missense_Mutation	SNP	A	A	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:40655828A>C	ENST00000406785.1	-	2	1782	c.1593T>G	c.(1591-1593)atT>atG	p.I531M	SLC8A1_ENST00000542756.1_Missense_Mutation_p.I531M|SLC8A1_ENST00000408028.2_Missense_Mutation_p.I531M|SLC8A1_ENST00000406391.2_Missense_Mutation_p.I531M|SLC8A1_ENST00000405901.3_Missense_Mutation_p.I531M|SLC8A1_ENST00000405269.1_Missense_Mutation_p.I531M|SLC8A1_ENST00000403092.1_Missense_Mutation_p.I531M|SLC8A1_ENST00000402441.1_Missense_Mutation_p.I531M|SLC8A1_ENST00000542024.1_Missense_Mutation_p.I531M|SLC8A1_ENST00000332839.4_Missense_Mutation_p.I531M			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	531	Calx-beta 2.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.I531M(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CATCATCAAAAATAGTTACAG	0.438000													11	77					0	0	0.001855	0	0
DNM1P46	196968	broad.mit.edu	37	15	100341337	100341337	+	RNA	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr15:100341337C>T	ENST00000341853.1	-	0	309					NR_003260.1																						GCTGTGGGTCCATGGAGTGCA	0.592000													4	64					0	0	0.009096	0	0
CDH4	1002	broad.mit.edu	37	20	60511823	60511823	+	Missense_Mutation	SNP	C	C	A	rs139936391		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr20:60511823C>A	ENST00000360469.5	+	16	2661	c.2573C>A	c.(2572-2574)aCg>aAg	p.T858K	CDH4_ENST00000543233.1_Missense_Mutation_p.T784K	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	858					adherens junction organization|cell junction assembly		calcium ion binding	p.T858K(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			AACGACCCCACGGCACCCCCC	0.637000													4	22					3.59834e-05	4.52376e-05	0.001168	1	0
NCKAP5	344148	broad.mit.edu	37	2	133542855	133542855	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:133542855C>A	ENST00000409261.1	-	14	1902	c.1529G>T	c.(1528-1530)aGt>aTt	p.S510I	NCKAP5_ENST00000317721.6_Missense_Mutation_p.S510I|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	510							protein binding	p.S510I(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCCAAACAGACTGTCGGAAAC	0.507000													19	142					3.32936e-07	4.66415e-07	0.006122	1	0
TLN1	7094	broad.mit.edu	37	9	35704723	35704723	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr9:35704723G>A	ENST00000314888.9	-	44	6176	c.5823C>T	c.(5821-5823)ccC>ccT	p.P1941P	TLN1_ENST00000464379.1_5'UTR|TLN1_ENST00000540444.1_Silent_p.P1835P	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1941	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	p.P1941P(1)		NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGGCATCACTGGGGCTGCACT	0.592000													10	64					0	0	0.006214	0	0
WDR93	56964	broad.mit.edu	37	15	90258235	90258235	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr15:90258235T>A	ENST00000268130.7	+	6	766	c.665T>A	c.(664-666)gTg>gAg	p.V222E	WDR93_ENST00000560294.1_Missense_Mutation_p.V222E	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	222					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH	p.V222E(1)		NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			TGGCTGGATGTGTATAAATTG	0.463000													3	28					0	0	0.004672	0	0
PSD2	84249	broad.mit.edu	37	5	139192997	139192997	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:139192997G>T	ENST00000274710.3	+	3	680	c.475G>T	c.(475-477)Gac>Tac	p.D159Y		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	159					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	p.D159Y(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCAGCCTCGACTCCCTAGA	0.657000													10	66					1.08611e-07	1.53796e-07	0.010729	1	0
TUBB1	81027	broad.mit.edu	37	20	57599127	57599127	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr20:57599127G>A	ENST00000217133.1	+	4	914	c.645G>A	c.(643-645)ctG>ctA	p.L215L		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	215					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity	p.L215L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	TCCGTACCCTGAAGCTGACGA	0.547000													12	114					0	0	0.003163	0	0
CADPS	8618	broad.mit.edu	37	3	62751604	62751604	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:62751604C>A	ENST00000383710.4	-	2	846	c.497G>T	c.(496-498)gGg>gTg	p.G166V	CADPS_ENST00000357948.3_Missense_Mutation_p.G166V|CADPS_ENST00000490353.2_Missense_Mutation_p.G166V|CADPS_ENST00000283269.9_Missense_Mutation_p.G166V	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	166					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	p.G166V(2)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CTGGGTTTCCCCATTGAGGAA	0.473000													22	102					4.72057e-08	6.77845e-08	0.003954	1	0
NPFFR2	10886	broad.mit.edu	37	4	73012886	73012886	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:73012886G>A	ENST00000308744.6	+	4	1024	c.926G>A	c.(925-927)cGg>cAg	p.R309Q	NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.R207Q|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000395999.1_Missense_Mutation_p.R210Q	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	309					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	p.R309Q(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TACTGGTGCCGGGAAGACTGG	0.453000													7	54					0	0	0.001984	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869542	151869542	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:151869542C>A	ENST00000329342.5	+	3	457	c.232C>A	c.(232-234)Cct>Act	p.P78T		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	78							protein binding	p.P78T(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CATGAACTACCCTCTCTGGAG	0.587000													6	61					2.74318e-10	4.18768e-10	0.006214	1	0
DRD3	1814	broad.mit.edu	37	3	113850108	113850108	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:113850108G>T	ENST00000383673.2	-	6	1293	c.863C>A	c.(862-864)cCc>cAc	p.P288H	DRD3_ENST00000295881.7_Intron|DRD3_ENST00000467632.1_Missense_Mutation_p.P288H|DRD3_ENST00000460779.1_Missense_Mutation_p.P288H	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	288					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	p.P288H(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	CGCTATGGTGGGACTCAGGGA	0.532000													27	206					1.39806e-14	2.29431e-14	0.008361	1	0
FXR1	8087	broad.mit.edu	37	3	180667013	180667013	+	Splice_Site	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:180667013A>T	ENST00000357559.4	+	7	897		c.e7-1		FXR1_ENST00000305586.7_Splice_Site|FXR1_ENST00000480918.1_Splice_Site|FXR1_ENST00000491062.1_Splice_Site|FXR1_ENST00000468861.1_Splice_Site|FXR1_ENST00000445140.2_Splice_Site	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1						apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		p.?(1)		breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			GTTTGTTTATAGTCTGCCAGT	0.378000													21	154					0	0	0.014323	0	0
LOC494141	494141	broad.mit.edu	37	11	18231409	18231409	+	Silent	SNP	A	A	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:18231409A>G	ENST00000527059.1	+	1	655	c.195A>G	c.(193-195)ccA>ccG	p.P65P	RP11-113D6.10_ENST00000534640.1_Silent_p.P65P|RP11-113D6.10_ENST00000340135.3_Silent_p.P65P														p.P65P(1)									TCCTCTTTCCACAACAGCTGT	0.443000													5	66					0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179459287	179459287	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:179459287C>T	ENST00000589042.1	-	296	58158	c.57934G>A	c.(57934-57936)Ggt>Agt	p.G19312S	TTN_ENST00000342992.6_Missense_Mutation_p.G16744S|TTN_ENST00000359218.5_Missense_Mutation_p.G10372S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G10439S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G17671S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G10247S|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17671	Fibronectin type-III 39.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G10439S(1)|p.G16744S(1)|p.G10372S(1)|p.G16742S(1)|p.G10247S(1)		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)			TCTGACCCACCATCATACTTA	0.393000													19	107					0	0	0.010504	0	0
RBP3	5949	broad.mit.edu	37	10	48388080	48388080	+	Missense_Mutation	SNP	A	A	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr10:48388080A>C	ENST00000224600.4	-	1	2911	c.2798T>G	c.(2797-2799)cTg>cGg	p.L933R		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	933	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.L933R(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CTTGGCACGCAGAGCCACTAT	0.632000													7	37					0	0	0.006214	0	0
SLFN5	162394	broad.mit.edu	37	17	33591742	33591742	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:33591742A>T	ENST00000299977.4	+	4	1827	c.1679A>T	c.(1678-1680)cAg>cTg	p.Q560L	SLFN5_ENST00000542451.1_Intron	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	560					cell differentiation		ATP binding	p.Q560L(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		ACAAATAAACAGTATGAGTTG	0.448000													31	223					0	0	0.009535	0	0
VWA3B	200403	broad.mit.edu	37	2	98709612	98709612	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:98709612G>T	ENST00000477737.1	+	2	261	c.57G>T	c.(55-57)gaG>gaT	p.E19D	VWA3B_ENST00000435344.1_Missense_Mutation_p.E19D|VWA3B_ENST00000451075.2_5'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	19								p.E19D(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AGAGGCAAGAGGGATGGATTA	0.458000													8	60					0.00307968	0.00340991	0.003080	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33577099	33577099	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:33577099G>T	ENST00000504830.1	-	19	3367	c.3032C>A	c.(3031-3033)tCc>tAc	p.S1011Y	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S926Y	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1011	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.S1011Y(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TTTTCCATTGGAAATAGTGCC	0.537000										HNSCC(64;0.19)			24	125					3.7963e-18	6.36643e-18	0.003330	1	0
CTNNA3	29119	broad.mit.edu	37	10	67726441	67726441	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr10:67726441G>A	ENST00000433211.1	-	17	2503	c.2329C>T	c.(2329-2331)Cac>Tac	p.H777Y	CTNNA3_ENST00000373744.4_Missense_Mutation_p.H777Y|CTNNA3_ENST00000373735.1_Missense_Mutation_p.H116Y	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	777					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	p.H777Y(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TTCAGTTGGTGGGAGTAGAAC	0.423000													17	54					0	0	0.006122	0	0
OLIG3	167826	broad.mit.edu	37	6	137815202	137815202	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:137815202G>T	ENST00000367734.2	-	1	329	c.106C>A	c.(106-108)Cgt>Agt	p.R36S		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	36					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R36S(1)		endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		GAGTTGAGACGGCTCTCCtgg	0.617000													11	66					3.07112e-06	4.12625e-06	0.010729	1	0
MAP7D1	55700	broad.mit.edu	37	1	36640515	36640515	+	Silent	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:36640515C>T	ENST00000373151.2	+	6	972	c.756C>T	c.(754-756)tcC>tcT	p.S252S	MAP7D1_ENST00000316156.4_Intron|MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000373150.4_Silent_p.S252S	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	252						cytoplasm|spindle		p.S252S(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GCAGGTGCTCCGTGTCGGCAG	0.607000													3	28					0	0	0.004672	0	0
ZNF461	92283	broad.mit.edu	37	19	37130807	37130807	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:37130807C>A	ENST00000588268.1	-	6	667	c.440G>T	c.(439-441)gGc>gTc	p.G147V	ZNF461_ENST00000360357.4_Missense_Mutation_p.G124V|ZNF461_ENST00000540605.2_5'UTR	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G20V(1)|p.G147V(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ATGACAGTTGCCTTCCCAGAT	0.368000													39	232					1.97e-11	3.07896e-11	0.010771	1	0
MYOD1	4654	broad.mit.edu	37	11	17741348	17741348	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:17741348C>A	ENST00000250003.3	+	1	234	c.19C>A	c.(19-21)Ccg>Acg	p.P7T		NM_002478.4	NP_002469.2	P15172	MYOD1_HUMAN	myogenic differentiation 1	7					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity	p.P7T(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	17						ACTGTCGCCACCGCTCCGCGA	0.657000													7	49					1.12685e-05	1.47308e-05	0.004482	1	0
KIAA1429	25962	broad.mit.edu	37	8	95539232	95539232	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:95539232C>A	ENST00000297591.5	-	8	1315	c.1240G>T	c.(1240-1242)Ggg>Tgg	p.G414W	KIAA1429_ENST00000421249.2_Missense_Mutation_p.G414W|KIAA1429_ENST00000437199.1_Missense_Mutation_p.G414W	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	414					mRNA processing|RNA splicing	nucleus		p.G414W(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TAGCTTAACCCTTTTATTATT	0.373000													7	102					0.000157383	0.000187838	0.003080	1	0
ASTN1	460	broad.mit.edu	37	1	177001649	177001649	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:177001649G>T	ENST00000367654.2	-	3	821	c.808C>A	c.(808-810)Cgc>Agc	p.R270S	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.R270S|ASTN1_ENST00000367657.3_Missense_Mutation_p.R270S|ASTN1_ENST00000424564.2_Missense_Mutation_p.R270S			O14525	ASTN1_HUMAN	astrotactin 1	270					cell migration|neuron cell-cell adhesion	integral to membrane		p.R270C(1)|p.R270S(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCGAGGGTGCGCGTGACCTGG	0.582000													6	75					1.6384e-10	2.50531e-10	0.001984	1	0
RNF25	64320	broad.mit.edu	37	2	219528862	219528862	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:219528862C>T	ENST00000295704.2	-	10	1638	c.1198G>A	c.(1198-1200)Gag>Aag	p.E400K		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	400					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding	p.E400K(1)		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)		GGCCCCTTCTCTTGTGGAGGA	0.647000													24	184					0	0	0.002780	0	0
ZAN	7455	broad.mit.edu	37	7	100385713	100385713	+	RNA	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:100385713C>A	ENST00000542585.1	+	0	7327				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.T2393T(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGATTACCACCGTCTACGGCT	0.607000													19	49					2.35188e-11	3.65716e-11	0.006122	1	0
CMA1	1215	broad.mit.edu	37	14	24976708	24976708	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:24976708C>G	ENST00000250378.3	-	2	92	c.63G>C	c.(61-63)gaG>gaC	p.E21D	RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	21					interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity	p.E21D(1)		kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		CCCCGATGATCTCCCCTGGAA	0.507000													4	119					0	0	0.009096	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	162943	162943	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:162943C>T	ENST00000283426.6	+	11	1738	c.1688C>T	c.(1687-1689)gCc>gTc	p.A563V		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	563					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.A563V(1)		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)		GCTGCAGAGGCCTTCCCCGGG	0.662000													3	3					0	0	0.004672	0	0
TTLL5	23093	broad.mit.edu	37	14	76349199	76349199	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:76349199A>T	ENST00000298832.9	+	30	3899	c.3694A>T	c.(3694-3696)Aac>Tac	p.N1232Y	TTLL5_ENST00000556893.1_Missense_Mutation_p.N783Y|TTLL5_ENST00000557636.1_Missense_Mutation_p.N1247Y|TTLL5_ENST00000554510.1_Missense_Mutation_p.N741Y	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1232					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	p.N1232Y(1)		NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		ACCCCCACCCAACCACGAACA	0.478000													6	52					0	0	0.001168	0	0
MUC16	94025	broad.mit.edu	37	19	9074029	9074029	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:9074029C>T	ENST00000397910.4	-	3	13620	c.13417G>A	c.(13417-13419)Ggg>Agg	p.G4473R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4475	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.G4473R(2)|p.G106R(1)		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						GTATGTTGCCCTTGTAACGTG	0.507000													19	87					0	0	0.006122	0	0
OR2T10	127069	broad.mit.edu	37	1	248756151	248756151	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:248756151C>A	ENST00000330500.2	-	1	949	c.919G>T	c.(919-921)Gtg>Ttg	p.V307L		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V307L(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	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;0.0265)			GGTTTCTGCACGCTCAGCATT	0.393000													10	99					3.86212e-05	4.81586e-05	0.008291	1	0
C2orf44	80304	broad.mit.edu	37	2	24260771	24260771	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:24260771C>T	ENST00000295148.4	-	2	1651	c.1594G>A	c.(1594-1596)Gac>Aac	p.D532N	C2orf44_ENST00000406895.3_Missense_Mutation_p.D532N	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	532							protein binding	p.D532N(1)	C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGTGTGGTCTGGTGTGCTG	0.483000			T	ALK	NSCLC								4	44					0	0	0.000602	0	0
HMCN1	83872	broad.mit.edu	37	1	186141245	186141245	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:186141245G>T	ENST00000271588.4	+	102	16025	c.15796G>T	c.(15796-15798)Gaa>Taa	p.E5266*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.E5266*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5266	EGF-like 4; calcium-binding (Potential).				response to stimulus|visual perception	basement membrane	calcium ion binding	p.E5266*(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GACCAAGGCAGAAAATGGAAC	0.428000													6	94					0.00198382	0.00222333	0.001984	1	0
OR11H4	390442	broad.mit.edu	37	14	20711609	20711609	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:20711609C>A	ENST00000315409.2	+	1	712	c.659C>A	c.(658-660)aCt>aAt	p.T220N		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T220N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		CTCTTTTTCACTAGTATGTAC	0.453000													23	248					7.41877e-09	1.08392e-08	0.012319	1	0
KMT2D	8085	broad.mit.edu	37	12	49420271	49420271	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:49420271C>G	ENST00000301067.7	-	48	15477	c.15478G>C	c.(15478-15480)Gac>Cac	p.D5160H		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.D5160H(1)|p.D4890H(1)									TTCACCTCGTCCCGCTCAATG	0.572000													18	35					0	0	0.007413	0	0
FGB	2244	broad.mit.edu	37	4	155487824	155487824	+	Splice_Site	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:155487824G>T	ENST00000302068.4	+	3	553	c.490_splice	c.e3+1	p.D164_splice	FGB_ENST00000502545.1_3'UTR|FGB_ENST00000509493.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	164		Cleavage; by plasmin; to break down fibrin clots.			platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.D164Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GCAAGTAAAAGGTAGATATCC	0.408000													13	72					9.31168e-06	1.23306e-05	0.001855	1	0
MAGEB6	158809	broad.mit.edu	37	X	26212996	26212996	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:26212996C>T	ENST00000379034.1	+	2	1182	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	345	MAGE.							p.R345W(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CGTGGTTTACCGGCAGGTGTG	0.498000													19	112					0	0	0.002780	0	0
TRBV10-2	28584	broad.mit.edu	37	7	142206665	142206665	+	RNA	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:142206665G>T	ENST00000426318.2	-	0	240																											TAATAGATCAGCCTCAGCCCA	0.493000													13	161					0.000219431	0.000261214	0.002450	1	0
MUC16	94025	broad.mit.edu	37	19	9060907	9060907	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:9060907C>A	ENST00000397910.4	-	3	26742	c.26539G>T	c.(26539-26541)Gtg>Ttg	p.V8847L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8849	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.V8847L(2)|p.V4480L(1)		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						GTTTTTTCCACTGATGGGCGG	0.517000													11	102					0.010729	0.0115592	0.010729	1	0
CDC27	996	broad.mit.edu	37	17	45219271	45219271	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:45219271C>G	ENST00000066544.3	-	12	1592	c.1499G>C	c.(1498-1500)tGg>tCg	p.W500S	CDC27_ENST00000531206.1_Missense_Mutation_p.W506S|CDC27_ENST00000446365.2_Missense_Mutation_p.W439S|CDC27_ENST00000527547.1_Missense_Mutation_p.W499S	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	500					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GCACAGTACCCAACCAGTATT	0.358000													5	222					0	0	0.003080	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000405598.1_Silent_p.S372S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					4	67					0	0	0.001984	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68810272	68810272	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:68810272G>T	ENST00000508048.1	-	3	249	c.214C>A	c.(214-216)Caa>Aaa	p.Q72K	TMPRSS11A_ENST00000334830.7_Missense_Mutation_p.Q73K|TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.Q73K|RP11-453E17.1_ENST00000500538.2_RNA			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	73	SEA.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.Q73K(1)		breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						TCCTTAAGTTGATATGTGTTG	0.343000													9	96					0.00621372	0.00675788	0.006214	1	0
SLC6A12	6539	broad.mit.edu	37	12	305962	305962	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:305962G>A	ENST00000428720.1	-	11	1905	c.1162C>T	c.(1162-1164)Ctc>Ttc	p.L388F	SLC6A12_ENST00000397296.2_Missense_Mutation_p.L388F|SLC6A12_ENST00000359674.4_Missense_Mutation_p.L388F|SLC6A12_ENST00000424061.2_Missense_Mutation_p.L388F|SLC6A12_ENST00000536824.1_Missense_Mutation_p.L388F	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	388					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.L388F(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			AGGAATATGAGCATGATAAAG	0.572000													7	92					0	0	0.001984	0	0
IPO11	51194	broad.mit.edu	37	5	61923142	61923142	+	Silent	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:61923142C>T	ENST00000325324.6	+	30	3094	c.2925C>T	c.(2923-2925)ttC>ttT	p.F975F	IPO11_ENST00000512177.1_3'UTR|IPO11_ENST00000409534.1_Silent_p.F94F|IPO11_ENST00000409296.3_Silent_p.F1015F	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	975						cytoplasm|nucleus	protein binding	p.F975F(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		TGCAAGGATTCTAAGAGCACA	0.493000													4	62					0	0	0.009096	0	0
GCLC	2729	broad.mit.edu	37	6	53363677	53363677	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:53363677C>T	ENST00000229416.6	-	16	2274	c.1791G>A	c.(1789-1791)atG>atA	p.M597I		NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	597					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding	p.M597I(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	GGCTATAATTCATTTCATCAG	0.388000													12	143					0	0	0.001855	0	0
ZNF154	7710	broad.mit.edu	37	19	58216288	58216288	+	Silent	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:58216288A>T	ENST00000512439.2	-	2	289	c.93T>A	c.(91-93)ctT>ctA	p.L31L	ZNF154_ENST00000426889.1_Silent_p.L31L|AC003006.7_ENST00000596085.1_Intron|AC003006.7_ENST00000599221.1_Intron			Q13106	ZN154_HUMAN	zinc finger protein 154	31	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L31L(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GAGCCTCATCAAGGAGACCCC	0.507000													18	94					0	0	0.008871	0	0
SENP7	57337	broad.mit.edu	37	3	101051736	101051736	+	Silent	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:101051736T>C	ENST00000394085.3	-	1	377	c.15A>G	c.(13-15)ttA>ttG	p.L5L	SENP7_ENST00000348610.3_Intron|SENP7_ENST00000394095.2_Intron|SENP7_ENST00000394091.1_Intron|SENP7_ENST00000394094.2_Intron|SENP7_ENST00000358203.3_Intron|SENP7_ENST00000314261.7_Intron			Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	0					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ATTTGATATATAAAAATTTTT	0.254000													3	24					0	0	0.004672	0	0
MYO7B	4648	broad.mit.edu	37	2	128393797	128393797	+	Silent	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:128393797C>A	ENST00000389524.4	+	44	5999	c.5946C>A	c.(5944-5946)gcC>gcA	p.A1982A	MYO7B_ENST00000428314.1_Silent_p.A1981A|MYO7B_ENST00000409816.2_Silent_p.A1981A|MYO7B_ENST00000409090.1_Silent_p.A834A			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1981	FERM 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	p.A1981A(1)|p.A2225A(1)		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)		TCCTTCTAGCCTATGACAAGC	0.622000													8	64					0.00307968	0.00340991	0.003080	1	0
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145																		p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000													5	11					0	0	0.000602	0	0
KRTAP10-5	386680	broad.mit.edu	37	21	46000336	46000336	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr21:46000336G>A	ENST00000400372.1	-	1	145	c.120C>T	c.(118-120)gtC>gtT	p.V40V	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	40	22 X 5 AA repeats of C-C-X(3).					keratin filament		p.V40V(1)		endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						CTGGGGTGCAGACCAGGGTCA	0.697000													10	61					0	0	0.010729	0	0
PVRL2	5819	broad.mit.edu	37	19	45389236	45389236	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:45389236G>A	ENST00000252483.5	+	7	1239	c.1239G>A	c.(1237-1239)gcG>gcA	p.A413A	CTB-129P6.4_ENST00000585408.1_RNA	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	413					adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	p.A413A(2)		breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		CCCCAAAAGCGAAGCTGGAGG	0.622000													4	58					0	0	0.009096	0	0
ACACA	31	broad.mit.edu	37	17	35506835	35506835	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:35506835C>A	ENST00000353139.5	-	45	6113	c.5632G>T	c.(5632-5634)Gtt>Ttt	p.V1878F	ACACA_ENST00000394406.2_Missense_Mutation_p.V1841F|ACACA_ENST00000360679.3_Missense_Mutation_p.V1783F|ACACA_ENST00000335166.5_Missense_Mutation_p.V1763F|ACACA_ENST00000361253.5_5'UTR	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1841	Carboxyltransferase.				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	p.V1878F(1)|p.V1783F(1)		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)	GAATTCTCAACCTGGATGGTT	0.423000													11	85					0.00010058	0.000121303	0.013537	1	0
SCGB1A1	7356	broad.mit.edu	37	11	62186609	62186609	+	Silent	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:62186609C>G	ENST00000278282.2	+	1	103	c.42C>G	c.(40-42)ctC>ctG	p.L14L	SCGB1A1_ENST00000534397.1_Intron	NM_003357.4	NP_003348.1	P11684	UTER_HUMAN	secretoglobin, family 1A, member 1 (uteroglobin)	14					embryo implantation|signal transduction	extracellular region	binding|phospholipase A2 inhibitor activity	p.L14L(1)		lung(1)	1						CACTGGCTCTCTGCTGCAGCT	0.607000													5	20					0	0	0.000602	0	0
OR2M2	391194	broad.mit.edu	37	1	248343636	248343636	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:248343636G>A	ENST00000359682.2	+	1	349	c.349G>A	c.(349-351)Gtt>Att	p.V117I		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V117I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTTTTGGCTGTTATGGCTTA	0.403000													41	293					0	0	0.006230	0	0
SATB2	23314	broad.mit.edu	37	2	200137156	200137156	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:200137156G>C	ENST00000443023.1	-	10	3268	c.1803C>G	c.(1801-1803)atC>atG	p.I601M	SATB2_ENST00000260926.5_Missense_Mutation_p.I660M|SATB2_ENST00000457245.1_Missense_Mutation_p.I660M|SATB2_ENST00000428695.1_Missense_Mutation_p.I542M|SATB2_ENST00000417098.1_Missense_Mutation_p.I660M			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	660						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	p.I660M(1)		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						GGAAGAACTTGATGATGGTGT	0.547000													7	98					0	0	0.001984	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153270489	153270489	+	Silent	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:153270489C>T	ENST00000290722.1	-	7	1021	c.969G>A	c.(967-969)ctG>ctA	p.L323L		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	323					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	p.L323L(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCCAGGGGACAGGATGTTGA	0.597000													42	211					0	0	0.014410	0	0
TPP2	7174	broad.mit.edu	37	13	103290630	103290630	+	Silent	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr13:103290630C>A	ENST00000376052.3	+	15	1894	c.1878C>A	c.(1876-1878)ctC>ctA	p.L626L	TPP2_ENST00000376065.4_Silent_p.L626L			P29144	TPP2_HUMAN	tripeptidyl peptidase II	626					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	p.L626L(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CAGGTCCGCTCTTCAGAGTTC	0.403000													15	95					0.00316338	0.00349837	0.003163	1	0
TMEM132E	124842	broad.mit.edu	37	17	32965202	32965202	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:32965202C>A	ENST00000321639.5	+	10	3234	c.2906C>A	c.(2905-2907)gCa>gAa	p.A969E		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	969						integral to membrane		p.A969E(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CGGCCCACTGCACCCCCGGAC	0.677000											OREG0024325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	12					0.00024832	0.000292572	0.009096	1	0
GPR19	2842	broad.mit.edu	37	12	12815046	12815046	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:12815046G>A	ENST00000540510.1	-	2	529	c.337C>T	c.(337-339)Ctc>Ttc	p.L113F	GPR19_ENST00000332427.2_Missense_Mutation_p.L113F			Q15760	GPR19_HUMAN	G protein-coupled receptor 19	113						integral to plasma membrane	G-protein coupled receptor activity	p.L113F(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		ACGCTGATGAGAAGGTCAGCA	0.507000													11	45					0	0	0.010729	0	0
PTH2R	5746	broad.mit.edu	37	2	209308240	209308240	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:209308240C>A	ENST00000272847.2	+	6	890	c.677C>A	c.(676-678)aCt>aAt	p.T226N	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	226						integral to plasma membrane	parathyroid hormone receptor activity	p.T226N(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		ATTGAGGCAACTTCTGTGGAC	0.368000													9	88					1.12685e-05	1.47308e-05	0.004482	1	0
ALX1	8092	broad.mit.edu	37	12	85677633	85677633	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:85677633G>A	ENST00000316824.3	+	2	665	c.510G>A	c.(508-510)gaG>gaA	p.E170E		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	170					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.E170E(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		TGAGGACAGAGCTCACTGAGG	0.463000													28	70					0	0	0.007291	0	0
SESTD1	91404	broad.mit.edu	37	2	180008480	180008480	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:180008480C>G	ENST00000428443.3	-	9	1004	c.688G>C	c.(688-690)Gga>Cga	p.G230R		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	230					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			GAAACCCCTCCGTCTGAGCCA	0.388000													8	76					0	0	0.008291	0	0
LGSN	51557	broad.mit.edu	37	6	63990290	63990290	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:63990290T>C	ENST00000370657.4	-	4	1199	c.1166A>G	c.(1165-1167)aAc>aGc	p.N389S	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	389					glutamine biosynthetic process		glutamate-ammonia ligase activity	p.N389S(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	TATACAGCTGTTGTCATTGTA	0.463000													33	181					0	0	0.004878	0	0
DSCAM	1826	broad.mit.edu	37	21	41684035	41684035	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr21:41684035C>A	ENST00000400454.1	-	9	2512	c.2035G>T	c.(2035-2037)Gag>Tag	p.E679*		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	679	Ig-like C2-type 7.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.E679*(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTTTGGTGCTCCACAGCGGCG	0.478000													7	116					2.17888e-05	2.77724e-05	0.006214	1	0
PXDNL	137902	broad.mit.edu	37	8	52336217	52336217	+	Silent	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:52336217C>G	ENST00000356297.4	-	14	1813	c.1713G>C	c.(1711-1713)ggG>ggC	p.G571G	PXDNL_ENST00000543296.1_Silent_p.G571G	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	571	Ig-like C2-type 4.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.G571G(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGTCAGGGAACCCTGCGTCGT	0.483000													4	34					0	0	0.009096	0	0
MIR509-3	100126337	broad.mit.edu	37	X	146341228	146341228	+	RNA	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:146341228C>T	ENST00000390725.1	-	0	16					NR_030629.1																						ATTGCCACGTCTGCAGTAGGG	0.443000													30	203					0	0	0.012213	0	0
SCN2A	6326	broad.mit.edu	37	2	166179847	166179847	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:166179847G>A	ENST00000357398.3	+	12	2143	c.1853G>A	c.(1852-1854)gGa>gAa	p.G618E	SCN2A_ENST00000283256.6_Missense_Mutation_p.G618E|SCN2A_ENST00000375437.2_Missense_Mutation_p.G618E|SCN2A_ENST00000375427.2_Missense_Mutation_p.G618E			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	618					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G618E(2)		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)	CACAGACATGGAGAACGGCGC	0.557000													3	28					0	0	0.004672	0	0
IBTK	25998	broad.mit.edu	37	6	82924239	82924239	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:82924239T>C	ENST00000306270.7	-	12	2458	c.1909A>G	c.(1909-1911)Aca>Gca	p.T637A	IBTK_ENST00000503631.1_Intron|IBTK_ENST00000510291.1_Missense_Mutation_p.T637A	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	637	BTB 1.				negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity	p.T637A(1)		central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		CAAGTATCTGTGTATATAAAT	0.343000													4	63					0	0	0.009096	0	0
ITIH2	3698	broad.mit.edu	37	10	7785208	7785208	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr10:7785208C>G	ENST00000358415.4	+	17	2361	c.2195C>G	c.(2194-2196)tCt>tGt	p.S732C	ITIH2_ENST00000379587.4_Missense_Mutation_p.S721C	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	732					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.S732C(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AACCTGGTTTCTGACCCAGAA	0.353000													11	167					0	0	0.013537	0	0
CSTL1	128817	broad.mit.edu	37	20	23420937	23420937	+	Silent	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr20:23420937G>T	ENST00000347397.1	+	2	279	c.33G>T	c.(31-33)ctG>ctT	p.L11L	CSTL1_ENST00000246020.2_Silent_p.L11L|CSTL1_ENST00000472140.1_3'UTR	NM_138283.1	NP_612140.1	Q9H114	CST1L_HUMAN	cystatin-like 1	11						extracellular region	cysteine-type endopeptidase inhibitor activity	p.L11L(1)		breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1)	14	Colorectal(13;0.0993)|Lung NSC(19;0.235)					ACCCCCTGCTGCTGCTGATTG	0.552000													16	66					0.00498961	0.00545238	0.004990	1	0
ART3	419	broad.mit.edu	37	4	77022153	77022153	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:77022153C>G	ENST00000355810.4	+	8	1037	c.918C>G	c.(916-918)aaC>aaG	p.N306K	ART3_ENST00000349321.3_Missense_Mutation_p.N306K|ART3_ENST00000341029.5_Missense_Mutation_p.N306K	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	306	3 X 10 AA tandem repeats of [GS]-E-K-N- [QW]-K-L-E-D-H.				protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity	p.N306K(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GTGAGAAAAACCAGAAGCTTG	0.348000													5	123					0	0	0.001984	0	0
RRM2	6241	broad.mit.edu	37	2	10263908	10263908	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:10263908G>A	ENST00000360566.2	+	4	835	c.544G>A	c.(544-546)Gag>Aag	p.E182K	RRM2_ENST00000304567.5_Missense_Mutation_p.E122K	NM_001165931.1	NP_001159403.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2	122					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	p.E122K(1)|p.E182K(1)		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)		CCTGAAACCCGAGGAGAGATA	0.423000													12	125					0	0	0.001855	0	0
LRCH1	23143	broad.mit.edu	37	13	47279214	47279214	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr13:47279214A>G	ENST00000311191.6	+	12	1641	c.1412A>G	c.(1411-1413)gAt>gGt	p.D471G	LRCH1_ENST00000389797.3_Missense_Mutation_p.D471G|LRCH1_ENST00000389798.3_Missense_Mutation_p.D471G	NM_001164213.1	NP_001157685.1	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	471								p.D471G(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		TTAAGCACAGATATTACAGAG	0.274000													4	83					0	0	0.009096	0	0
CPNE8	144402	broad.mit.edu	37	12	39064600	39064600	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:39064600C>G	ENST00000331366.5	-	19	1533	c.1437G>C	c.(1435-1437)atG>atC	p.M479I	CPNE8_ENST00000546603.1_5'UTR|CPNE8_ENST00000538596.2_Missense_Mutation_p.M148I|CPNE8_ENST00000360449.3_Missense_Mutation_p.M467I	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	479	VWFA.							p.M479I(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				CCAATTCGACCATTGCTTTAA	0.328000													7	29					0	0	0.001984	0	0
CDH22	64405	broad.mit.edu	37	20	44803585	44803585	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr20:44803585A>T	ENST00000372262.3	-	11	2447	c.2047T>A	c.(2047-2049)Tac>Aac	p.Y683N	CDH22_ENST00000537909.1_Missense_Mutation_p.Y683N	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	683					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Y683N(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GACATGTCGTAGGCTTCGGTG	0.692000													4	39					0	0	0.000602	0	0
LINC00969	440993	broad.mit.edu	37	3	195400791	195400791	+	RNA	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:195400791A>T	ENST00000445430.1	+	0	1387																											CCTCGGGGCAAACTCGCTGTT	0.597000													5	27					0	0	0.000602	0	0
RIMS2	9699	broad.mit.edu	37	8	104898002	104898002	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:104898002C>T	ENST00000507740.1	+	2	835	c.599C>T	c.(598-600)tCa>tTa	p.S200L	RIMS2_ENST00000406091.3_Missense_Mutation_p.S392L|RIMS2_ENST00000436393.2_Missense_Mutation_p.S170L|RIMS2_ENST00000262231.10_Missense_Mutation_p.S200L|RIMS2_ENST00000522174.1_3'UTR	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	423					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.S200L(2)|p.S392L(1)|p.S170L(1)|p.S428L(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GATCGACCATCAAGGCAAAGA	0.453000										HNSCC(12;0.0054)			9	35					0	0	0.004482	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872567	51872567	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr20:51872567A>T	ENST00000371497.5	+	2	3457	c.2570A>T	c.(2569-2571)cAa>cTa	p.Q857L	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.Q854L|TSHZ2_ENST00000603338.2_Missense_Mutation_p.Q854L	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	857					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q857L(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CTGATTCTACAAGCCCAGTTT	0.493000													9	54					0	0	0.006214	0	0
LEF1	51176	broad.mit.edu	37	4	109088893	109088893	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:109088893C>T	ENST00000379951.2	-	1	1219	c.31G>A	c.(31-33)Ggc>Agc	p.G11S	LEF1_ENST00000438313.2_Missense_Mutation_p.G11S|LEF1_ENST00000265165.1_Missense_Mutation_p.G11S|LEF1-AS1_ENST00000436413.1_RNA	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	11	CTNNB1-binding (By similarity).|Poly-Gly.				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding	p.G11S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		TCCCCCCCGCCGCCGCCACCT	0.637000													11	112					0	0	0.010729	0	0
SERPINA1	5265	broad.mit.edu	37	14	94849012	94849012	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:94849012C>T	ENST00000448921.1	-	4	1135	c.563G>A	c.(562-564)gGt>gAt	p.G188D	SERPINA1_ENST00000440909.1_Missense_Mutation_p.G188D|SERPINA1_ENST00000437397.1_Missense_Mutation_p.G188D|SERPINA1_ENST00000355814.4_Missense_Mutation_p.G188D|SERPINA1_ENST00000404814.4_Missense_Mutation_p.G188D|SERPINA1_ENST00000393088.4_Missense_Mutation_p.G188D|SERPINA1_ENST00000393087.4_Missense_Mutation_p.G188D|SERPINA1_ENST00000402629.1_Missense_Mutation_p.G188D|SERPINA1_ENST00000449399.3_Missense_Mutation_p.G188D	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	188					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity	p.G188D(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	CCCTTGAGTACCCTTCTCCAC	0.438000													17	123					0	0	0.007413	0	0
ZNF594	84622	broad.mit.edu	37	17	5085607	5085607	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:5085607C>A	ENST00000399604.4	-	1	2085	c.1945G>T	c.(1945-1947)Gag>Tag	p.E649*	ZNF594_ENST00000575779.1_Nonsense_Mutation_p.E649*			Q96JF6	ZN594_HUMAN	zinc finger protein 594	649					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E649*(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TAGGGTTTCTCTCCAGTATGA	0.413000													21	101					4.96729e-08	7.1105e-08	0.008871	1	0
PTGER4	5734	broad.mit.edu	37	5	40692421	40692421	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:40692421A>G	ENST00000302472.3	+	3	2432	c.1408A>G	c.(1408-1410)Agc>Ggc	p.S470G		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	470					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity	p.S470G(1)		breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CCCTAAGGGGAGCTCCCTGCA	0.493000													8	42					0	0	0.010729	0	0
XIRP2	129446	broad.mit.edu	37	2	168108197	168108197	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:168108197C>A	ENST00000409195.1	+	9	10384	c.10295C>A	c.(10294-10296)tCg>tAg	p.S3432*	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.S3210*|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.S3432*|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3257					actin cytoskeleton organization	cell junction	actin binding	p.S3432L(1)|p.S3432*(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATTGTTGAGTCGAAGATGAAA	0.453000													4	73					0.00909568	0.00981095	0.009096	1	0
SLFN11	91607	broad.mit.edu	37	17	33679766	33679766	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:33679766C>A	ENST00000394566.1	-	7	2587	c.2315G>T	c.(2314-2316)gGt>gTt	p.G772V	SLFN11_ENST00000308377.4_Missense_Mutation_p.G772V	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	772						nucleus	ATP binding	p.G772V(1)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCCCTGAACACCCTGGGACCA	0.438000													9	58					1.12685e-05	1.47308e-05	0.004482	1	0
CROCCP2	84809	broad.mit.edu	37	1	16945540	16945540	+	RNA	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:16945540C>T	ENST00000412962.1	-	0	1979																											CAGGCTGTGCCGTGTACCCAT	0.637000													14	359					0	0	0.002450	0	0
CC2D2B	387707	broad.mit.edu	37	10	97763935	97763935	+	Nonsense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr10:97763935C>G	ENST00000371198.2	+	11	1264	c.224C>G	c.(223-225)tCa>tGa	p.S75*	ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|CC2D2B_ENST00000410012.2_5'UTR|CC2D2B_ENST00000344386.3_5'UTR|ENTPD1-AS1_ENST00000451364.1_RNA|RP11-690P14.4_ENST00000475252.2_3'UTR			Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	0										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		TATAGCTTCTCAAGCTTATCT	0.279000													10	18					0	0	0.006214	0	0
GTF3C1	2975	broad.mit.edu	37	16	27499680	27499680	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:27499680C>A	ENST00000356183.4	-	23	3583	c.3568G>T	c.(3568-3570)Ggc>Tgc	p.G1190C	GTF3C1_ENST00000561623.1_Missense_Mutation_p.G1190C	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1190						transcription factor TFIIIC complex	DNA binding|protein binding	p.G1190C(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TCTTCCCAGCCAGCACAGAGC	0.562000													25	186					1.5548e-18	2.61696e-18	0.005443	1	0
TSNAX	7257	broad.mit.edu	37	1	231700291	231700291	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:231700291G>A	ENST00000366639.4	+	6	671	c.513G>A	c.(511-513)caG>caA	p.Q171Q	TRAX_ENST00000602962.1_Intron	NM_005999.2	NP_005990.1	Q99598	TSNAX_HUMAN	translin-associated factor X	171	Interaction with C1D.				cell differentiation|multicellular organismal development|spermatogenesis	nucleus|perinuclear region of cytoplasm	protein transporter activity|sequence-specific DNA binding	p.Q171Q(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)				CTGATGCACAGGATAAGCAGT	0.413000													14	199					0	0	0.002450	0	0
PDZRN4	29951	broad.mit.edu	37	12	41967324	41967324	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:41967324G>T	ENST00000298919.7	+	10	2351	c.1963G>T	c.(1963-1965)Gcc>Tcc	p.A655S	PDZRN4_ENST00000402685.2_Missense_Mutation_p.A915S|PDZRN4_ENST00000539469.2_Missense_Mutation_p.A657S			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	915							ubiquitin-protein ligase activity|zinc ion binding	p.A657S(1)|p.A915S(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GAAGGAACGTGCCTTAAAGAT	0.517000													14	53					1.49906e-05	1.92946e-05	0.002450	1	0
CALHM1	255022	broad.mit.edu	37	10	105215108	105215108	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr10:105215108C>G	ENST00000329905.5	-	2	1088	c.952G>C	c.(952-954)Gag>Cag	p.E318Q	RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	318						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding	p.E318Q(1)		large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						GGTGGCTCCTCCTGGCCCAGC	0.647000													4	26					0	0	0.009096	0	0
NIPA1	123606	broad.mit.edu	37	15	23052736	23052736	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr15:23052736G>A	ENST00000437912.2	-	4	1409	c.112C>T	c.(112-114)Ctc>Ttc	p.L38F	NIPA1_ENST00000561183.1_Missense_Mutation_p.L38F|NIPA1_ENST00000538684.1_5'UTR|NIPA1_ENST00000337435.4_Missense_Mutation_p.L113F			Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	113					cell death	early endosome|integral to membrane|plasma membrane		p.L113F(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		TCCTTCAGGAGATAGGAAGCT	0.413000													6	76					0	0	0.001168	0	0
ANKRD33	341405	broad.mit.edu	37	12	52284753	52284753	+	Silent	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:52284753C>A	ENST00000301190.6	+	5	1250	c.1023C>A	c.(1021-1023)tcC>tcA	p.S341S	ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_Silent_p.S147S|ANKRD33_ENST00000340970.4_Silent_p.S216S	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	216								p.S341S(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		GAAGCAAGTCCGTGCCAGAGC	0.657000													10	24					1.58986e-06	2.16778e-06	0.008291	1	0
S1PR1	1901	broad.mit.edu	37	1	101704852	101704852	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:101704852G>T	ENST00000305352.6	+	2	687	c.312G>T	c.(310-312)ttG>ttT	p.L104F	S1PR1_ENST00000475821.1_3'UTR	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	104					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	p.L104F(2)		NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						ACCTGCTCTTGTCTGGGGCCA	0.547000											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	43					0.00198382	0.00222333	0.001984	1	0
RCC1	1104	broad.mit.edu	37	1	28862433	28862433	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:28862433G>T	ENST00000373833.6	+	10	997	c.712G>T	c.(712-714)Ggc>Tgc	p.G238C	RCC1_ENST00000373831.3_Missense_Mutation_p.G269C|RCC1_ENST00000373832.1_Missense_Mutation_p.G238C|RCC1_ENST00000398958.2_Missense_Mutation_p.G238C			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	238					cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity	p.G238C(1)|p.G269C(1)		breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GGGAAGCCGGGGCCACGTGAG	0.562000													12	91					5.50884e-06	7.33713e-06	0.013537	1	0
FRYL	285527	broad.mit.edu	37	4	48553511	48553511	+	Splice_Site	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:48553511C>T	ENST00000537810.1	-	37	5124	c.4520_splice	c.e37+1	p.S1507_splice	FRYL_ENST00000503238.1_Splice_Site_p.S1507_splice|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Splice_Site_p.S1507_splice|FRYL_ENST00000358350.4_Splice_Site_p.S1507_splice|FRYL_ENST00000507873.2_5'UTR			O94915	FRYL_HUMAN	FRY-like	1507					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.S1507N(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AAGTACTTACCTCTCTTCAAT	0.368000													14	57					0	0	0.002450	0	0
SHOX2	6474	broad.mit.edu	37	3	157820469	157820469	+	Nonsense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:157820469G>A	ENST00000490689.2	-	2	1699	c.166C>T	c.(166-168)Cag>Tag	p.Q56*	SHOX2_ENST00000441443.2_Nonsense_Mutation_p.Q56*|SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000425436.3_Nonsense_Mutation_p.Q185*|SHOX2_ENST00000483851.2_Nonsense_Mutation_p.Q185*|SHOX2_ENST00000389589.4_Nonsense_Mutation_p.Q209*			O60902	SHOX2_HUMAN	short stature homeobox 2	185					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q56*(1)|p.Q209*(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CTGGGTACCTGCACTCGGGCC	0.622000													6	54					0	0	0.001168	0	0
PCDHA9	9752	broad.mit.edu	37	5	140229524	140229524	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:140229524G>C	ENST00000378122.3	+	1	2168	c.1444G>C	c.(1444-1446)Gct>Cct	p.A482P	PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.A482P|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_014005.3	NP_054724.1												p.A482P(2)		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)			TGCGCGGGACGCTGACGCGCA	0.662000													15	70					0	0	0.002450	0	0
ZFAT	57623	broad.mit.edu	37	8	135614084	135614084	+	Silent	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:135614084C>A	ENST00000520727.1	-	7	2141	c.1842G>T	c.(1840-1842)acG>acT	p.T614T	ZFAT_ENST00000520356.1_Silent_p.T614T|ZFAT_ENST00000377838.3_Silent_p.T626T|ZFAT_ENST00000520214.1_Silent_p.T614T|ZFAT_ENST00000523399.1_Silent_p.T564T|ZFAT_ENST00000429442.2_Silent_p.T614T	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	626					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	p.T614T(1)|p.T626T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CTTCACCTTGCGTCTGGACTG	0.542000													10	80					2.80697e-09	4.17413e-09	0.010729	1	0
SCML4	256380	broad.mit.edu	37	6	108067985	108067985	+	Missense_Mutation	SNP	T	T	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:108067985T>G	ENST00000369022.2	-	3	430	c.221A>C	c.(220-222)cAg>cCg	p.Q74P	SCML4_ENST00000369021.3_Missense_Mutation_p.Q103P|SCML4_ENST00000369020.3_Missense_Mutation_p.Q132P			Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.Q132P(1)|p.Q103P(1)		endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		GACGGCCTGCTGCAGCACCGC	0.622000													10	57					0	0	0.006214	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947084	57947084	+	Missense_Mutation	SNP	C	C	A	rs141876179	byFrequency	TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:57947084C>A	ENST00000335397.3	+	3	484	c.168C>A	c.(166-168)caC>caA	p.H56Q		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H56Q(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				ACCAGCTCCACGCTCCAATGT	0.488000													17	149					6.49762e-13	1.03849e-12	0.006122	1	0
ENOPH1	58478	broad.mit.edu	37	4	83381180	83381180	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:83381180G>A	ENST00000273920.3	+	6	961	c.693G>A	c.(691-693)gtG>gtA	p.V231V	ENOPH1_ENST00000509635.1_Silent_p.V143V	NM_021204.3	NP_067027.1	Q9UHY7	ENOPH_HUMAN	enolase-phosphatase 1	231					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity	p.V231V(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						CTGTGGTGGTGAGACCAGGCA	0.473000													6	49					0	0	0.001168	0	0
MOV10L1	54456	broad.mit.edu	37	22	50573048	50573048	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr22:50573048A>T	ENST00000262794.5	+	15	2142	c.2059A>T	c.(2059-2061)Acc>Tcc	p.T687S	MOV10L1_ENST00000540615.1_Missense_Mutation_p.T667S|MOV10L1_ENST00000545383.1_Missense_Mutation_p.T687S|MOV10L1_ENST00000395858.3_Missense_Mutation_p.T687S|MOV10L1_ENST00000395843.1_5'UTR	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	687					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	p.T687S(1)|p.T667S(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TGGACAGTCCACCAGCAAAAA	0.478000													11	129					0	0	0.013537	0	0
CUL9	23113	broad.mit.edu	37	6	43182863	43182863	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:43182863G>T	ENST00000252050.4	+	30	5819	c.5735G>T	c.(5734-5736)gGc>gTc	p.G1912V	RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000372647.2_Missense_Mutation_p.G1884V|CUL9_ENST00000354495.3_Missense_Mutation_p.G1802V	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1912					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	p.G1912V(1)		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						GGAACCCTGGGCCACACTGTT	0.567000													15	113					0.000422831	0.000491876	0.004007	1	0
TRPM7	54822	broad.mit.edu	37	15	50916388	50916388	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr15:50916388G>A	ENST00000313478.7	-	12	1696	c.1415C>T	c.(1414-1416)cCg>cTg	p.P472L	TRPM7_ENST00000560955.1_Missense_Mutation_p.P472L	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	472					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	p.P472L(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TTCCAGTCTCGGAATGGTAAG	0.323000													4	46					0	0	0.009096	0	0
BARHL2	343472	broad.mit.edu	37	1	91182622	91182622	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:91182622C>G	ENST00000370445.4	-	1	172	c.131G>C	c.(130-132)aGg>aCg	p.R44T		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	44						nucleus	sequence-specific DNA binding	p.R44T(1)		cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		GGCCTGACTCCTAAAATCCGC	0.577000													6	101					0	0	0.001168	0	0
OR6S1	341799	broad.mit.edu	37	14	21108870	21108870	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:21108870C>A	ENST00000320704.3	-	1	980	c.981G>T	c.(979-981)gaG>gaT	p.E327D		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	327					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E327D(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		TTACTGCTTTCTCACTGAGAC	0.358000													16	130					2.23348e-06	3.01406e-06	0.004007	1	0
APPBP2	10513	broad.mit.edu	37	17	58524966	58524966	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:58524966C>G	ENST00000083182.3	-	13	2021	c.1734G>C	c.(1732-1734)caG>caC	p.Q578H		NM_006380.2	NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	578					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding	p.Q578H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			CCTCGACATTCTGAGAAATCA	0.488000													30	257					0	0	0.009535	0	0
GOLGA2P9	440518	broad.mit.edu	37	19	22780195	22780195	+	RNA	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:22780195C>T	ENST00000600260.1	+	0	273					NR_033899.1																						TGCCACTCACCTGGAGATGTG	0.517000													11	29					0	0	0.001855	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389659	150389659	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:150389659G>A	ENST00000223293.5	+	3	379	c.285G>A	c.(283-285)gtG>gtA	p.V95V		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	95						integral to membrane	GTP binding	p.V95V(1)		kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		acaaagaggtgcagaggtgct	0.527000													7	37					0	0	0.001984	0	0
PCDHA4	56144	broad.mit.edu	37	5	140187260	140187260	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:140187260G>T	ENST00000530339.1	+	1	488	c.488G>T	c.(487-489)gGg>gTg	p.G163V	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.G163V|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.G163V|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018907.2	NP_061730.1												p.G163V(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGATATCGGGGAGAACGCC	0.522000													15	59					7.93312e-07	1.08652e-06	0.002450	1	0
MAST4	375449	broad.mit.edu	37	5	66055638	66055638	+	Silent	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:66055638G>C	ENST00000404260.3	+	2	773	c.465G>C	c.(463-465)ctG>ctC	p.L155L	MAST4_ENST00000478569.1_3'UTR|MAST4_ENST00000403625.2_Silent_p.L155L|MAST4_ENST00000406374.1_Silent_p.L155L|MAST4_ENST00000406039.1_Silent_p.L155L			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	155						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.L155L(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AAAGACAGCTGAGTGAGGATG	0.512000													6	45					0	0	0.001984	0	0
OR1J2	26740	broad.mit.edu	37	9	125273228	125273228	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr9:125273228C>A	ENST00000335302.5	+	1	148	c.148C>A	c.(148-150)Cag>Aag	p.Q50K		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q50K(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						GCTGCTCATCCAGCTGGACTC	0.557000													40	123					1.48646e-12	2.36342e-12	0.010771	1	0
AGO2	27161	broad.mit.edu	37	8	141545586	141545586	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:141545586C>A	ENST00000220592.5	-	17	2364	c.2252G>T	c.(2251-2253)tGt>tTt	p.C751F	AGO2_ENST00000519980.1_Intron	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2									p.C751F(1)									AGCGTGACTACACAGGTAGAA	0.562000													9	68					7.48243e-07	1.02786e-06	0.006214	1	0
HMCN1	83872	broad.mit.edu	37	1	186034450	186034450	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:186034450G>T	ENST00000271588.4	+	49	7823	c.7594G>T	c.(7594-7596)Ggc>Tgc	p.G2532C	HMCN1_ENST00000367492.2_Missense_Mutation_p.G2532C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2532	Ig-like C2-type 23.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.G2532C(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TATATCTGGTGGCCGTTTTCT	0.468000													8	24					0.00307968	0.00340991	0.003080	1	0
KLHL9	55958	broad.mit.edu	37	9	21334826	21334826	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr9:21334826G>A	ENST00000359039.4	-	1	553	c.33C>T	c.(31-33)ggC>ggT	p.G11G	KLHL9_ENST00000537938.1_Intron			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	11					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody		p.G11G(1)		endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		GGGCAGAGACGCCCATTTCGC	0.463000													13	52					0	0	0.001855	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141231580	141231580	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:141231580G>C	ENST00000389328.4	-	17	2842	c.2828C>G	c.(2827-2829)gCa>gGa	p.A943G	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.A836G|TRAPPC9_ENST00000438773.2_Missense_Mutation_p.A845G	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	845					cell differentiation	endoplasmic reticulum|Golgi apparatus		p.A943G(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GTAGTCGCCTGCTTTGTTGCT	0.587000													10	71					0	0	0.010729	0	0
OOEP	441161	broad.mit.edu	37	6	74079496	74079496	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:74079496G>C	ENST00000370359.5	-	1	19	c.20C>G	c.(19-21)gCc>gGc	p.A7G	OOEP-AS1_ENST00000445350.2_RNA|OOEP_ENST00000370363.1_Intron	NM_001080507.2	NP_001073976.1	A6NGQ2	OOEP_HUMAN	oocyte expressed protein	7						cytoplasm		p.A7G(1)		large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						GGACTCAGCGGCACCAGCATC	0.667000													8	82					0	0	0.004482	0	0
FAM65C	140876	broad.mit.edu	37	20	49209638	49209638	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr20:49209638G>A	ENST00000327979.2	-	18	2707	c.2296C>T	c.(2296-2298)Cac>Tac	p.H766Y	FAM65C_ENST00000535356.1_Missense_Mutation_p.H770Y|FAM65C_ENST00000045083.2_Missense_Mutation_p.H766Y			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	766								p.H766Y(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGGTAGCTGTGAAACTGGAAC	0.607000													13	94					0	0	0.013537	0	0
SETD2	29072	broad.mit.edu	37	3	47161676	47161676	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:47161676C>A	ENST00000409792.3	-	3	4492	c.4450G>T	c.(4450-4452)Gaa>Taa	p.E1484*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1484					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.E981*(1)|p.E1484*(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ACTTACCTTTCTGTTAAATAA	0.328000			"""N, F, S, Mis"""		clear cell renal carcinoma								15	75					3.41278e-10	5.20124e-10	0.004990	1	0
NOD2	64127	broad.mit.edu	37	16	50745464	50745464	+	Silent	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:50745464C>T	ENST00000300589.2	+	4	1747	c.1642C>T	c.(1642-1644)Ctg>Ttg	p.L548L		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	548	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	p.L548L(1)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CCCCACCCTCCTGCACCTGGG	0.627000													6	47					0	0	0.003080	0	0
MYO16	23026	broad.mit.edu	37	13	109753146	109753146	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr13:109753146G>C	ENST00000356711.2	+	28	3409	c.3283G>C	c.(3283-3285)Gct>Cct	p.A1095P	MYO16_ENST00000357550.2_Missense_Mutation_p.A1095P|MYO16_ENST00000457511.2_Missense_Mutation_p.A607P	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1095	Myosin head-like 2.				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	p.A1095P(1)		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)			TAAGCCACTGGCTGATACATT	0.478000													5	27					0	0	0.000602	0	0
AGL	178	broad.mit.edu	37	1	100345510	100345510	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:100345510C>T	ENST00000294724.4	+	13	2121	c.1643C>T	c.(1642-1644)cCc>cTc	p.P548L	AGL_ENST00000370163.3_Missense_Mutation_p.P548L|AGL_ENST00000370161.2_Missense_Mutation_p.P532L|AGL_ENST00000361302.3_Missense_Mutation_p.P532L|AGL_ENST00000361522.4_Missense_Mutation_p.P531L|AGL_ENST00000370165.3_Missense_Mutation_p.P548L|AGL_ENST00000361915.3_Missense_Mutation_p.P548L	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	548					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	p.P548L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		AATTTGCAACCCAATTTATAT	0.373000													3	88					0	0	0.009096	0	0
PKHD1	5314	broad.mit.edu	37	6	51612989	51612989	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:51612989G>T	ENST00000371117.3	-	58	9700	c.9425C>A	c.(9424-9426)aCc>aAc	p.T3142N	PKHD1_ENST00000340994.4_Missense_Mutation_p.T3142N	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3142					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.T3142N(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGAGATTCTGGTACAGTTGTC	0.438000													48	282					6.08268e-21	1.03903e-20	0.014410	1	0
VPS13C	54832	broad.mit.edu	37	15	62202476	62202476	+	Nonsense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr15:62202476G>C	ENST00000261517.5	-	64	8817	c.8744C>G	c.(8743-8745)tCa>tGa	p.S2915*	VPS13C_ENST00000395898.3_Nonsense_Mutation_p.S2872*|VPS13C_ENST00000395896.4_Nonsense_Mutation_p.S2915*|VPS13C_ENST00000249837.3_Nonsense_Mutation_p.S2872*	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2915					protein localization			p.S2915*(2)		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						AAGTTTGCCTGACAAACTTTC	0.348000													5	32					0	0	0.001984	0	0
RNASE13	440163	broad.mit.edu	37	14	21502310	21502310	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:21502310C>A	ENST00000382951.3	-	2	275	c.138G>T	c.(136-138)aaG>aaT	p.K46N	NDRG2_ENST00000403829.3_Intron	NM_001012264.3	NP_001012264.1	Q5GAN3	RNS13_HUMAN	ribonuclease, RNase A family, 13 (non-active)	46						extracellular region	nucleic acid binding|pancreatic ribonuclease activity	p.K46N(1)		cervix(1)|endometrium(1)|lung(5)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	12	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)		CCCGGAAACCCTTTGGGTAGT	0.458000													18	107					1.50039e-11	2.34899e-11	0.012319	1	0
GPATCH8	23131	broad.mit.edu	37	17	42475368	42475368	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:42475368G>C	ENST00000434000.1	-	9	4125	c.3843C>G	c.(3841-3843)atC>atG	p.I1281M	GPATCH8_ENST00000591680.1_Missense_Mutation_p.I1359M			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1359						intracellular	nucleic acid binding|zinc ion binding	p.I1359M(1)		breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GCTGAATGTGGATGGGTTGCA	0.597000													6	36					0	0	0.001168	0	0
MUC16	94025	broad.mit.edu	37	19	9070227	9070227	+	Nonsense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:9070227G>C	ENST00000397910.4	-	3	17422	c.17219C>G	c.(17218-17220)tCa>tGa	p.S5740*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5742	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S5740*(2)|p.S1373*(1)		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						GGATGTGTGTGAATCAGCTGG	0.478000													5	79					0	0	0.013537	0	0
ARSI	340075	broad.mit.edu	37	5	149678006	149678006	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:149678006G>A	ENST00000328668.7	-	2	1060	c.481C>T	c.(481-483)Cgt>Tgt	p.R161C		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	161						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding	p.R161C(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGCCCCGACGGGTGGGCAGA	0.602000													8	45					0	0	0.004482	0	0
HIST1H1T	3010	broad.mit.edu	37	6	26108121	26108121	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:26108121C>G	ENST00000338379.4	-	1	243	c.201G>C	c.(199-201)aaG>aaC	p.K67N		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	67	H15.				cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding	p.K67N(1)		breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						CCAATGCCTTCTTGAGCGCAA	0.517000													27	66					0	0	0.007291	0	0
BRINP2	57795	broad.mit.edu	37	1	177249713	177249713	+	Silent	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:177249713C>T	ENST00000361539.4	+	8	1713	c.1401C>T	c.(1399-1401)gcC>gcT	p.A467A	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		467						extracellular region		p.A467A(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CCGCGTGTGCCCACTGTGCTC	0.647000													3	26					0	0	0.004672	0	0
DIP2B	57609	broad.mit.edu	37	12	51138374	51138374	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:51138374G>T	ENST00000301180.5	+	38	4517	c.4483G>T	c.(4483-4485)Gtg>Ttg	p.V1495L		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1495						nucleus	catalytic activity|transcription factor binding	p.V1495L(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TTTCAGTGCCGTGTTCACATG	0.463000													16	78					4.7546e-09	7.02489e-09	0.004007	1	0
ANXA2	302	broad.mit.edu	37	15	60649389	60649389	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr15:60649389C>A	ENST00000396024.3	-	7	563	c.404G>T	c.(403-405)aGa>aTa	p.R135I	ANXA2_ENST00000332680.4_Missense_Mutation_p.R153I|ANXA2_ENST00000451270.2_Missense_Mutation_p.R135I|ANXA2_ENST00000421017.2_Missense_Mutation_p.R135I	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN	annexin A2	135					angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity	p.R153I(1)		kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)	CTGGTTGGTTCTGGAGCAGAT	0.488000													6	54					1.26484e-09	1.90556e-09	0.003080	1	0
HTR3B	9177	broad.mit.edu	37	11	113775684	113775684	+	Nonsense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:113775684G>A	ENST00000260191.2	+	1	286	c.29G>A	c.(28-30)tGg>tAg	p.W10*		NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	10					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity	p.W10*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		GCTCCCCTGTGGGCCTGCATC	0.433000													5	53					0	0	0.001984	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33642030	33642030	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:33642030C>A	ENST00000504830.1	-	11	1938	c.1603G>T	c.(1603-1605)Ggg>Tgg	p.G535W	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G535W	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	535	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G535W(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGTTTCTTCCCCACTGTGATG	0.597000										HNSCC(64;0.19)			3	29					6.4e-05	7.90712e-05	0.004672	1	0
CTHRC1	115908	broad.mit.edu	37	8	104384794	104384794	+	Silent	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:104384794T>A	ENST00000520337.1	+	1	134	c.15T>A	c.(13-15)ggT>ggA	p.G5G	CTHRC1_ENST00000415886.2_Intron|CTHRC1_ENST00000330295.5_Intron	NM_001256099.1	NP_001243028.1	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	0						collagen				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			GGCCGCCAGGTAGGAGCATCA	0.517000													8	44					0	0	0.003080	0	0
RPL23A	6147	broad.mit.edu	37	17	27050632	27050632	+	Missense_Mutation	SNP	T	T	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:27050632T>G	ENST00000422514.2	+	4	1043	c.430T>G	c.(430-432)Tac>Gac	p.Y144D	RPL23A_ENST00000472628.1_Missense_Mutation_p.Y58D|RPL23A_ENST00000394938.4_Missense_Mutation_p.Y182D|RPL23A_ENST00000496182.1_Missense_Mutation_p.Y58D	NM_000984.5	NP_000975.2	P62750	RL23A_HUMAN	ribosomal protein L23a	144					cell proliferation|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	nucleotide binding|protein binding|rRNA binding|structural constituent of ribosome	p.Y144D(1)		endometrium(1)|lung(3)|ovary(1)	5	Lung NSC(42;0.00431)					GGCTCCTGATTACGATGCTTT	0.512000													16	192					0	0	0.007413	0	0
WDR3	10885	broad.mit.edu	37	1	118501533	118501533	+	Splice_Site	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:118501533G>T	ENST00000349139.4	+	26	2630	c.2582_splice	c.e26-1	p.R861_splice	SPAG17_ENST00000336338.5_Intron	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	861						nuclear membrane|nucleolus		p.R861S(1)		breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TTTCTATCAGGATTCACTTTG	0.388000													8	49					1.12685e-05	1.47308e-05	0.004482	1	0
LDHA	3939	broad.mit.edu	37	11	18424527	18424527	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:18424527G>T	ENST00000422447.3	+	5	832	c.559G>T	c.(559-561)Ggg>Tgg	p.G187W	LDHA_ENST00000430553.2_Missense_Mutation_p.G129W|LDHA_ENST00000542179.1_Missense_Mutation_p.G187W|LDHA_ENST00000227157.4_Missense_Mutation_p.G187W|LDHA_ENST00000540430.1_Missense_Mutation_p.G216W|LDHA_ENST00000396222.2_Missense_Mutation_p.G187W|LDHA_ENST00000379412.5_Missense_Mutation_p.G187W	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN	lactate dehydrogenase A	187					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding	p.G187W(2)|p.G216W(1)		central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12					NADH(DB00157)	AAGCTGTCATGGGTGGGTCCT	0.418000													8	57					7.48243e-07	1.02786e-06	0.006214	1	0
TMEM63B	55362	broad.mit.edu	37	6	44107259	44107259	+	Nonsense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:44107259C>T	ENST00000259746.9	+	7	646	c.463C>T	c.(463-465)Cag>Tag	p.Q155*	TMEM63B_ENST00000323267.6_Nonsense_Mutation_p.Q155*|TMEM63B_ENST00000527188.1_3'UTR			Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	155						integral to membrane	nucleotide binding|protein binding	p.Q155*(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CCTGTCCTTTCAGCGGCACAT	0.597000													8	42					0	0	0.004482	0	0
ANO4	121601	broad.mit.edu	37	12	101295476	101295476	+	Silent	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:101295476G>C	ENST00000538618.1	+	4	411	c.411G>C	c.(409-411)cgG>cgC	p.R137R	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392979.3_5'UTR|ANO4_ENST00000392977.3_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	0						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TCCATCAACGGCGAAGTGTGG	0.498000										HNSCC(74;0.22)			8	68					0	0	0.006214	0	0
OR5I1	10798	broad.mit.edu	37	11	55703124	55703124	+	Silent	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:55703124C>A	ENST00000301532.3	-	1	752	c.753G>T	c.(751-753)acG>acT	p.T251T		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T251T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CTTGGTAGATCGTCACTGAAG	0.428000													5	25					1.23904e-05	1.59927e-05	0.000602	1	0
C2orf78	388960	broad.mit.edu	37	2	74043355	74043355	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:74043355C>A	ENST00000409561.1	+	3	2126	c.2005C>A	c.(2005-2007)Cca>Aca	p.P669T		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	669								p.P669T(1)|p.P639T(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						CCAGCCATTCCCAGCTCTCAA	0.483000													13	40					9.31168e-06	1.23306e-05	0.001855	1	0
TEP1	7011	broad.mit.edu	37	14	20843947	20843947	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:20843947G>A	ENST00000262715.5	-	43	6370	c.6330C>T	c.(6328-6330)gtC>gtT	p.V2110V	TEP1_ENST00000545983.1_Silent_p.V448V|TEP1_ENST00000556935.1_Silent_p.V2002V	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2110					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.V2110V(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CACAGCCAGTGACCCAGTCAC	0.592000													5	48					0	0	0.003080	0	0
TRIM51	84767	broad.mit.edu	37	11	55653297	55653297	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:55653297G>T	ENST00000449290.2	+	2	485	c.393G>T	c.(391-393)tgG>tgT	p.W131C		NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	131						intracellular	zinc ion binding	p.W131C(2)									CCATTGAGTGGGCTGCTGAGG	0.468000													5	37					0.00116845	0.00132079	0.001168	1	0
DCLK1	9201	broad.mit.edu	37	13	36401822	36401822	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr13:36401822C>A	ENST00000255448.4	-	10	1568	c.1357G>T	c.(1357-1359)Gag>Tag	p.E453*	DCLK1_ENST00000379893.1_Nonsense_Mutation_p.E146*|DCLK1_ENST00000360631.3_Nonsense_Mutation_p.E453*	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	453	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	p.E453*(2)|p.E146*(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TCCATCTCCTCAATCAGAAGA	0.393000													13	85					0.00010058	0.000121303	0.013537	1	0
HCLS1	3059	broad.mit.edu	37	3	121351227	121351227	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:121351227C>T	ENST00000314583.3	-	12	1283	c.1192G>A	c.(1192-1194)Gag>Aag	p.E398K	HCLS1_ENST00000428394.2_Missense_Mutation_p.E361K|HCLS1_ENST00000473883.1_5'UTR	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	398					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity	p.E398K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		AGCACCTCCTCATAGTCCCCC	0.552000													35	247					0	0	0.006230	0	0
AQP8	343	broad.mit.edu	37	16	25235823	25235823	+	Silent	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:25235823C>T	ENST00000219660.5	+	4	653	c.528C>T	c.(526-528)gcC>gcT	p.A176A	AQP8_ENST00000566125.1_Silent_p.A170A	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	176					cellular response to cAMP	integral to plasma membrane	water channel activity	p.A176A(2)		NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		GCATGGGTGCCATCAATGAGA	0.622000													12	60					0	0	0.013537	0	0
PLXDC1	57125	broad.mit.edu	37	17	37226111	37226111	+	Missense_Mutation	SNP	C	C	T	rs151120531	byFrequency	TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:37226111C>T	ENST00000315392.4	-	13	1592	c.1381G>A	c.(1381-1383)Gag>Aag	p.E461K	PLXDC1_ENST00000539608.1_3'UTR|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Missense_Mutation_p.E421K|CTD-2206N4.4_ENST00000583447.1_RNA	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	461					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction		p.E461K(1)		kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						ACACGGACCTCGATGAAGAAG	0.622000											OREG0024368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	34					0	0	0.001168	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33751492	33751492	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:33751492C>T	ENST00000515401.1	-	3	813	c.651G>A	c.(649-651)atG>atA	p.M217I	ADAMTS12_ENST00000504582.1_Intron|ADAMTS12_ENST00000504830.1_Intron|ADAMTS12_ENST00000352040.3_Intron			P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	0					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCCAGGAGGACATGTGAGTCA	0.413000										HNSCC(64;0.19)			16	75					0	0	0.004990	0	0
SH2D3A	10045	broad.mit.edu	37	19	6754663	6754663	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:6754663G>C	ENST00000245908.6	-	6	1330	c.1061C>G	c.(1060-1062)cCc>cGc	p.P354R	SH2D3A_ENST00000437152.3_Missense_Mutation_p.P232R	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	354					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	p.P354R(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GTGTCCATGGGGAAGAGTGAG	0.587000													4	47					0	0	0.009096	0	0
OGFOD1	55239	broad.mit.edu	37	16	56504618	56504618	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:56504618G>C	ENST00000566157.1	+	10	1323	c.1200G>C	c.(1198-1200)gaG>gaC	p.E400D	OGFOD1_ENST00000568397.1_Missense_Mutation_p.E357D	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	400							iron ion binding|L-ascorbic acid 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	p.E400D(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	CTGAGCCAGAGAATAATCAGA	0.453000													3	31					0	0	0.009096	0	0
OXSM	54995	broad.mit.edu	37	3	25835776	25835776	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:25835776G>T	ENST00000280701.3	+	3	1270	c.1171G>T	c.(1171-1173)Ggg>Tgg	p.G391W	OXSM_ENST00000420173.2_Missense_Mutation_p.G308W	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	391					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity	p.G391W(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GGGAGCTGCAGGGGCAGTCGA	0.433000													12	81					3.07112e-06	4.12625e-06	0.010729	1	0
HDAC7	51564	broad.mit.edu	37	12	48190850	48190850	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:48190850T>C	ENST00000080059.7	-	7	652	c.653A>G	c.(652-654)aAg>aGg	p.K218R	HDAC7_ENST00000354334.3_Missense_Mutation_p.K218R|HDAC7_ENST00000427332.2_Missense_Mutation_p.K179R|HDAC7_ENST00000552960.1_Missense_Mutation_p.K201R|HDAC7_ENST00000380610.4_Missense_Mutation_p.K235R	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	179	Transcription repression 1 (By similarity).|Transcription repression 2 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	p.K179R(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		CGCACTCTCCTTTCGGAGCAG	0.652000													7	56					0	0	0.001984	0	0
CLEC16A	23274	broad.mit.edu	37	16	11071113	11071113	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:11071113G>T	ENST00000409790.1	+	8	990	c.760G>T	c.(760-762)Gtg>Ttg	p.V254L	CLEC16A_ENST00000409552.3_Missense_Mutation_p.V252L	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	254								p.V254L(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GAGTGATCTGGTGGCAGAGCA	0.527000													13	58					0.00136819	0.00154279	0.013537	1	0
PRAMEF11	440560	broad.mit.edu	37	1	12887653	12887653	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:12887653G>A	ENST00000535591.1	-	3	399	c.204C>T	c.(202-204)gtC>gtT	p.V68V		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	68								p.V68V(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						AGTTCTCACAGACATCCTGTA	0.448000													27	256					0	0	0.013726	0	0
MKI67	4288	broad.mit.edu	37	10	129913972	129913972	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr10:129913972C>A	ENST00000368654.3	-	7	1075	c.700G>T	c.(700-702)Gaa>Taa	p.E234*	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	234					cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.E234*(1)		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)				AAGGGAGATTCATTTTTTTTG	0.343000													12	40					6.40141e-05	7.90712e-05	0.010729	1	0
TENM2	57451	broad.mit.edu	37	5	167626894	167626894	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:167626894C>A	ENST00000519204.1	+	16	2943	c.2825C>A	c.(2824-2826)cCt>cAt	p.P942H	TENM2_ENST00000403607.2_Missense_Mutation_p.P887H|TENM2_ENST00000518659.1_Missense_Mutation_p.P1063H|TENM2_ENST00000520394.1_Missense_Mutation_p.P831H|TENM2_ENST00000545108.1_Missense_Mutation_p.P1063H					teneurin transmembrane protein 2									p.P1063H(1)|p.P896H(1)|p.P942H(1)									ATCGAGCTCCCTGGTTCCAAT	0.498000													27	171					1.7881e-09	2.67633e-09	0.008361	1	0
CDK15	65061	broad.mit.edu	37	2	202700488	202700488	+	Splice_Site	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:202700488T>A	ENST00000450471.2	+	8	937		c.e8+2		CDK15_ENST00000374598.4_Splice_Site|CDK15_ENST00000488419.1_Splice_Site|CDK15_ENST00000434439.1_Splice_Site|CDK15_ENST00000260967.2_Splice_Site|CDK15_ENST00000410091.3_Splice_Site	NM_001261435.1	NP_001248364.1	Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15								ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding	p.?(1)		breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	GGACATATGGTAAGAGTGGTG	0.443000													7	32					0	0	0.004482	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174463	150174463	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:150174463G>A	ENST00000307271.3	+	5	2167	c.1593G>A	c.(1591-1593)gtG>gtA	p.V531V		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	531						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	p.V531V(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TTGTCCTGGTGTTCCAGCTGG	0.493000													15	32					0	0	0.003163	0	0
USP54	159195	broad.mit.edu	37	10	75283501	75283501	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr10:75283501C>G	ENST00000339859.4	-	16	2302	c.2202G>C	c.(2200-2202)gaG>gaC	p.E734D	USP54_ENST00000428547.1_Missense_Mutation_p.E584D|USP54_ENST00000408019.1_Missense_Mutation_p.E734D|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000394811.2_5'UTR			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	734					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	p.E734D(1)		breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					TAGAAGATATCTCCTCACCTG	0.438000													50	158					0	0	0.014410	0	0
ROBO1	6091	broad.mit.edu	37	3	78663903	78663903	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:78663903C>G	ENST00000436010.2	-	26	5210	c.4213G>C	c.(4213-4215)Gtg>Ctg	p.V1405L	ROBO1_ENST00000464233.1_Missense_Mutation_p.V1444L|ROBO1_ENST00000495273.1_Missense_Mutation_p.V1399L|ROBO1_ENST00000467549.1_Missense_Mutation_p.V1344L			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1444					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	p.V1448L(1)|p.V1421L(1)|p.V1444L(1)|p.V1399L(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TCTGTAGACACGGGACTTGTG	0.468000													3	29					0	0	0.004672	0	0
COMP	1311	broad.mit.edu	37	19	18897083	18897083	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:18897083A>T	ENST00000542601.2	-	11	1563	c.1174T>A	c.(1174-1176)Ttt>Att	p.F392I	COMP_ENST00000425807.1_Missense_Mutation_p.F372I|COMP_ENST00000222271.2_Missense_Mutation_p.F425I			P49747	COMP_HUMAN	cartilage oligomeric matrix protein	425			PNSD -> V (in PSACH).		anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding	p.F425I(1)		breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TCTCCCACAAAGTCGTGGTCC	0.587000													6	40					0	0	0.001984	0	0
DCTN5	84516	broad.mit.edu	37	16	23678456	23678456	+	Silent	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:23678456G>T	ENST00000300087.2	+	6	691	c.540G>T	c.(538-540)acG>acT	p.T180T	DCTN5_ENST00000563998.1_3'UTR	NM_001199743.1|NM_032486.3	NP_001186672.1|NP_115875.1	Q9BTE1	DCTN5_HUMAN	dynactin 5 (p25)	180						centrosome	transferase activity	p.T180T(1)		endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(48;0.0156)		TGCCCCTGACGCAAGTCTAGC	0.507000													9	46					0.000442599	0.000511634	0.006214	1	0
CD19	930	broad.mit.edu	37	16	28948593	28948593	+	Splice_Site	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:28948593C>A	ENST00000538922.1	+	9	1262	c.1198_splice	c.e9-1	p.G400_splice	CD19_ENST00000324662.3_Splice_Site_p.G400_splice|CD19_ENST00000567541.1_Splice_Site_p.G400_splice	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN	CD19 molecule	400					cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity	p.P401T(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						AACCCCCAGGCCCAGAAGAAG	0.617000													6	12					8.12818e-05	9.85462e-05	0.001984	1	0
KCNQ2	3785	broad.mit.edu	37	20	62038676	62038676	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr20:62038676C>A	ENST00000354587.3	-	17	2140	c.1964G>T	c.(1963-1965)cGg>cTg	p.R655L	KCNQ2_ENST00000357249.2_Missense_Mutation_p.R629L|KCNQ2_ENST00000430658.1_Missense_Mutation_p.R616L|KCNQ2_ENST00000370226.1_Missense_Mutation_p.R617L|KCNQ2_ENST00000359125.2_Missense_Mutation_p.R647L|KCNQ2_ENST00000370224.1_Missense_Mutation_p.R655L|KCNQ2_ENST00000360480.3_Missense_Mutation_p.R619L|KCNQ2_ENST00000344462.3_Missense_Mutation_p.R643L|KCNQ2_ENST00000359689.1_Missense_Mutation_p.R647L			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	647					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R647Q(1)|p.R647L(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GATGCCCATCCGCTGCATGTA	0.642000													7	38					0.00448238	0.00492152	0.004482	1	0
PIGW	284098	broad.mit.edu	37	17	34894341	34894341	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:34894341T>C	ENST00000592983.1	+	2	1971	c.1391T>C	c.(1390-1392)cTg>cCg	p.L464P	PIGW_ENST00000328396.2_Missense_Mutation_p.L464P|MYO19_ENST00000590081.1_Intron			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	464					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity	p.L464P(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGATCAACCTGATGGTAGAT	0.353000													3	91					0	0	0.004672	0	0
PREX1	57580	broad.mit.edu	37	20	47265957	47265957	+	Silent	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr20:47265957C>A	ENST00000396220.1	-	25	3208	c.3186G>T	c.(3184-3186)cgG>cgT	p.R1062R	PREX1_ENST00000371941.3_Silent_p.R1062R			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1062					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.R1062R(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			AGCTGAGGCCCCGGTCTTCCT	0.602000													7	64					2.0095e-06	2.72379e-06	0.001984	1	0
PCDHB11	56125	broad.mit.edu	37	5	140580428	140580428	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:140580428C>G	ENST00000354757.3	+	1	1081	c.1081C>G	c.(1081-1083)Cca>Gca	p.P361A	PCDHB11_ENST00000536699.1_5'UTR	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		361	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.P361E(1)		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)			AGAAAATACGCCAGAGACCGT	0.403000													19	127					0	0	0.007413	0	0
KCNK13	56659	broad.mit.edu	37	14	90651285	90651285	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:90651285G>T	ENST00000282146.4	+	2	1606	c.1165G>T	c.(1165-1167)Ggg>Tgg	p.G389W		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	389			G -> A (in dbSNP:rs35909577).			integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.G389W(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TGAATTCTCAGGGGGGGTGGG	0.587000													10	16					7.48243e-07	1.02786e-06	0.006214	1	0
PTPRD	5789	broad.mit.edu	37	9	8507349	8507349	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr9:8507349G>A	ENST00000381196.4	-	19	2172	c.1629C>T	c.(1627-1629)acC>acT	p.T543T	PTPRD_ENST00000486161.1_Silent_p.T543T|PTPRD_ENST00000537002.1_Silent_p.T540T|PTPRD_ENST00000397606.3_Silent_p.T533T|PTPRD_ENST00000397611.3_Silent_p.T540T|PTPRD_ENST00000397617.3_Silent_p.T533T|PTPRD_ENST00000356435.5_Silent_p.T543T|PTPRD_ENST00000355233.5_Silent_p.T543T|PTPRD_ENST00000358503.5_Silent_p.T530T|PTPRD_ENST00000360074.4_Silent_p.T530T|PTPRD_ENST00000540109.1_Silent_p.T543T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	543	Fibronectin type-III 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.T543T(4)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AGTTGGCAATGGTATCTGAAC	0.463000										TSP Lung(15;0.13)			21	132					0	0	0.012319	0	0
LPHN3	23284	broad.mit.edu	37	4	62812636	62812636	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:62812636G>T	ENST00000512091.1	+	15	2967	c.2220G>T	c.(2218-2220)gaG>gaT	p.E740D	LPHN3_ENST00000508693.1_Missense_Mutation_p.E808D|LPHN3_ENST00000506720.1_Missense_Mutation_p.E808D|LPHN3_ENST00000514996.1_Missense_Mutation_p.E740D|LPHN3_ENST00000508946.1_Missense_Mutation_p.E740D|LPHN3_ENST00000506700.1_Missense_Mutation_p.E740D|LPHN3_ENST00000514157.1_Missense_Mutation_p.E740D|LPHN3_ENST00000507625.1_Missense_Mutation_p.E808D|LPHN3_ENST00000509896.1_Missense_Mutation_p.E808D|LPHN3_ENST00000507164.1_Missense_Mutation_p.E808D|LPHN3_ENST00000514591.1_Missense_Mutation_p.E740D|LPHN3_ENST00000545650.1_Missense_Mutation_p.E740D|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000504896.1_Missense_Mutation_p.E740D|LPHN3_ENST00000506746.1_Missense_Mutation_p.E808D|LPHN3_ENST00000511324.1_Missense_Mutation_p.E808D			Q9HAR2	LPHN3_HUMAN	latrophilin 3	727					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.E740D(3)		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						CTTTAGGAGAGATCAGAGTGG	0.363000													20	140					1.2644e-06	1.72915e-06	0.010504	1	0
ZNF700	90592	broad.mit.edu	37	19	12060182	12060182	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:12060182G>A	ENST00000482090.1	+	3	1707	c.1289G>A	c.(1288-1290)tGt>tAt	p.C430Y	ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000591944.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.C448Y			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C448Y(1)	ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						CCCTATGAATGTAAGGAATGT	0.483000													5	52					0	0	0.000602	0	0
XIRP2	129446	broad.mit.edu	37	2	168102966	168102966	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:168102966C>A	ENST00000409195.1	+	9	5153	c.5064C>A	c.(5062-5064)aaC>aaA	p.N1688K	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.N1466K|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.N1688K|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1513					actin cytoskeleton organization	cell junction	actin binding	p.N1688K(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAGATATTAACATGACTATCT	0.338000													8	60					5.68852e-11	8.78614e-11	0.004482	1	0
RRM2	6241	broad.mit.edu	37	2	10264847	10264847	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:10264847G>C	ENST00000360566.2	+	5	910	c.619G>C	c.(619-621)Gag>Cag	p.E207Q	RRM2_ENST00000304567.5_Missense_Mutation_p.E147Q	NM_001165931.1	NP_001159403.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2	147					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	p.E147Q(1)|p.E207Q(1)		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)		CCACTAGGTGGAGCGATTTAG	0.403000													9	85					0	0	0.008291	0	0
CNTN6	27255	broad.mit.edu	37	3	1262497	1262497	+	Translation_Start_Site	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:1262497G>A	ENST00000539053.1	+	0	590				CNTN6_ENST00000446702.2_Splice_Site_p.R61_splice|CNTN6_ENST00000350110.2_Splice_Site_p.R61_splice			Q9UQ52	CNTN6_HUMAN	contactin 6						axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		p.R61K(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CCTCATTATAGGTAAAATCCT	0.368000													17	100					0	0	0.010504	0	0
HTT	3064	broad.mit.edu	37	4	3137637	3137637	+	Silent	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:3137637G>T	ENST00000355072.5	+	20	2785	c.2640G>T	c.(2638-2640)gtG>gtT	p.V880V		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	880					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	p.V880V(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TTAGGCTGGTGAGCTTTTTGG	0.428000													10	88					7.48243e-07	1.02786e-06	0.006214	1	0
SKIV2L2	23517	broad.mit.edu	37	5	54640386	54640386	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:54640386C>G	ENST00000230640.5	+	9	1197	c.943C>G	c.(943-945)Cca>Gca	p.P315A	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.P214A	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	315					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.P315A(1)		NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TCGGCCCACTCCATTGCAACA	0.338000													6	37					0	0	0.001984	0	0
FHOD3	80206	broad.mit.edu	37	18	34335151	34335151	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr18:34335151C>G	ENST00000257209.4	+	22	3899	c.3777C>G	c.(3775-3777)ttC>ttG	p.F1259L	FHOD3_ENST00000445677.1_Missense_Mutation_p.F1221L|FHOD3_ENST00000359247.4_Missense_Mutation_p.F1242L|FHOD3_ENST00000590592.1_Missense_Mutation_p.F1434L|FHOD3_ENST00000591635.1_Missense_Mutation_p.F455L|FHOD3_ENST00000592128.1_Missense_Mutation_p.F238L	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1242	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.F1259L(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				TAAACAAATTCTGCAGGATTA	0.408000													11	21					0	0	0.013537	0	0
FAT3	120114	broad.mit.edu	37	11	92616425	92616425	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:92616425C>A	ENST00000298047.6	+	23	12820	c.12803C>A	c.(12802-12804)cCt>cAt	p.P4268H	FAT3_ENST00000525166.1_Missense_Mutation_p.P4118H|FAT3_ENST00000409404.2_Missense_Mutation_p.P4268H|FAT3_ENST00000533797.1_Missense_Mutation_p.P603H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4268					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.P4268H(2)|p.P843H(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACGTTTCACCCTGAGTCGCCC	0.657000										TCGA Ovarian(4;0.039)			18	117					1.56452e-12	2.47469e-12	0.007413	1	0
ABCD3	5825	broad.mit.edu	37	1	94982646	94982646	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:94982646C>G	ENST00000370214.4	+	23	1965	c.1941C>G	c.(1939-1941)ttC>ttG	p.F647L	ABCD3_ENST00000394233.2_Missense_Mutation_p.F537L|ABCD3_ENST00000536817.1_Missense_Mutation_p.F574L|ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000454898.2_Missense_Mutation_p.F671L	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	647	ABC transporter.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.F647L(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		ACTATGAATTCAAACAGATAA	0.358000													21	73					0	0	0.012319	0	0
COCH	1690	broad.mit.edu	37	14	31355160	31355160	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:31355160T>A	ENST00000460581.2	+	9	1329	c.783T>A	c.(781-783)gaT>gaA	p.D261E	COCH_ENST00000475087.1_Missense_Mutation_p.D373E|COCH_ENST00000396618.3_Missense_Mutation_p.D373E|COCH_ENST00000216361.4_Missense_Mutation_p.D373E|COCH_ENST00000382493.4_Missense_Mutation_p.D224E|RP11-829H16.3_ENST00000555108.1_RNA			O43405	COCH_HUMAN	cochlin	373	VWFA 1.				sensory perception of sound	proteinaceous extracellular matrix		p.D373E(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		TTCTAATTGATGGCTCCAGCA	0.423000													6	81					0	0	0.001168	0	0
MBTPS2	51360	broad.mit.edu	37	X	21863482	21863482	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:21863482G>C	ENST00000365779.2	+	3	499	c.418G>C	c.(418-420)Gaa>Caa	p.E140Q	MBTPS2_ENST00000379484.5_Missense_Mutation_p.E140Q|MBTPS2_ENST00000465888.1_3'UTR			O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	140					cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity	p.E140Q(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						GCTTCACAATGAACAGGTGTT	0.413000													3	23					0	0	0.009096	0	0
TTN	7273	broad.mit.edu	37	2	179404336	179404336	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:179404336G>T	ENST00000589042.1	-	352	98680	c.98456C>A	c.(98455-98457)cCt>cAt	p.P32819H	TTN_ENST00000342992.6_Missense_Mutation_p.P30251H|TTN_ENST00000359218.5_Missense_Mutation_p.P23879H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P23946H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P31178H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P23754H|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31178							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P30251H(1)|p.P23946H(1)|p.P23879H(1)|p.P23754H(1)|p.P30249H(1)		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)			ATCAGCAGGAGGTCTCCAGCT	0.527000													19	137					7.45023e-12	1.17239e-11	0.010504	1	0
SVEP1	79987	broad.mit.edu	37	9	113173599	113173599	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr9:113173599T>A	ENST00000401783.2	-	37	6728	c.6392A>T	c.(6391-6393)cAg>cTg	p.Q2131L	SVEP1_ENST00000374469.1_Missense_Mutation_p.Q2108L|SVEP1_ENST00000297826.5_Missense_Mutation_p.Q57L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2131	Sushi 12.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.Q2134L(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AGGGTTCCACTGCCCACCTCT	0.478000													11	33					0	0	0.013537	0	0
RNASE11	122651	broad.mit.edu	37	14	21052079	21052079	+	Silent	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:21052079T>A	ENST00000335950.4	-	3	1017	c.555A>T	c.(553-555)acA>acT	p.T185T	RNASE11_ENST00000432835.2_Silent_p.T185T|RNASE11_ENST00000555841.1_Silent_p.T185T|RNASE11_ENST00000398008.2_Silent_p.T185T|RNASE11_ENST00000398009.2_Silent_p.T185T|RNASE11_ENST00000553849.1_Silent_p.T185T	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	185						extracellular region	nucleic acid binding|pancreatic ribonuclease activity	p.T185T(1)		endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		GAGAATGACCTGTCAGCACTG	0.428000													7	60					0	0	0.003080	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18194908	18194908	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:18194908C>A	ENST00000314254.3	+	1	525	c.105C>A	c.(103-105)tgC>tgA	p.C35*	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	35						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.C35*(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TGCTGACGTGCATCATTTCCC	0.552000													22	105					3.6726e-16	6.07036e-16	0.003954	1	0
CACNA1A	773	broad.mit.edu	37	19	13335494	13335494	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:13335494G>C	ENST00000360228.5	-	38	5717	c.5718C>G	c.(5716-5718)atC>atG	p.I1906M	CACNA1A_ENST00000573710.2_Missense_Mutation_p.I1907M	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1907					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	p.I1907M(3)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TGGCAATCTTGATGTCCAGGG	0.592000													5	17					0	0	0.001168	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045545	142045545	+	RNA	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:142045545C>A	ENST00000390392.3	+	0	184																											GGGAGTTACGCAGACACCAAG	0.478000													11	223					0.00010058	0.000121303	0.013537	1	0
DDX58	23586	broad.mit.edu	37	9	32492480	32492480	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr9:32492480G>A	ENST00000379882.1	-	3	502	c.345C>T	c.(343-345)ctC>ctT	p.L115L	DDX58_ENST00000542096.1_Silent_p.L89L|DDX58_ENST00000545044.1_Intron|DDX58_ENST00000379868.1_Intron|DDX58_ENST00000379883.2_Silent_p.L160L			O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	160	CARD 2.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding	p.L160L(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TGTCTGATCTGAGAAGGCATT	0.398000													23	94					0	0	0.014323	0	0
NUDCD3	23386	broad.mit.edu	37	7	44524670	44524670	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:44524670G>C	ENST00000355451.6	-	2	685	c.406C>G	c.(406-408)Cca>Gca	p.P136A		NM_015332.3	NP_056147.2	Q8IVD9	NUDC3_HUMAN	NudC domain containing 3	136								p.P136A(1)		endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						ACAGGGCCTGGAGGCTGCACT	0.542000													8	46					0	0	0.003080	0	0
HARS	3035	broad.mit.edu	37	5	140054305	140054305	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:140054305C>T	ENST00000504366.1	-	11	3029	c.1210G>A	c.(1210-1212)Gat>Aat	p.D404N	HARS_ENST00000438307.2_Missense_Mutation_p.D433N|HARS_ENST00000415192.2_Missense_Mutation_p.D399N|HARS_ENST00000307633.3_Missense_Mutation_p.D413N|HARS_ENST00000504156.1_Missense_Mutation_p.D473N|HARS_ENST00000448240.1_Missense_Mutation_p.D278N|HARS_ENST00000431330.2_Missense_Mutation_p.D359N|HARS_ENST00000457527.2_Missense_Mutation_p.D453N			P12081	SYHC_HUMAN	histidyl-tRNA synthetase	473					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity	p.D473N(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	ATGACCCCATCCTTGAGTTCC	0.552000													15	101					0	0	0.002450	0	0
NLRP14	338323	broad.mit.edu	37	11	7070902	7070902	+	Splice_Site	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:7070902G>T	ENST00000299481.4	+	6	2470	c.2123_splice	c.e6-1	p.L708_splice		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	708					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	p.L708L(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TCTTCTGAAGGTTGAAATTTA	0.343000													7	107					0.00448238	0.00492152	0.004482	1	0
GPR112	139378	broad.mit.edu	37	X	135430934	135430934	+	Missense_Mutation	SNP	C	C	T	rs141778568	byFrequency	TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:135430934C>T	ENST00000394143.1	+	6	5360	c.5069C>T	c.(5068-5070)tCc>tTc	p.S1690F	GPR112_ENST00000287534.4_Missense_Mutation_p.S1627F|GPR112_ENST00000394141.1_Missense_Mutation_p.S1485F|GPR112_ENST00000370652.1_Missense_Mutation_p.S1690F|GPR112_ENST00000412101.1_Missense_Mutation_p.S1485F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1690					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S1690F(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GCTATTTCCTCCATTCCAAAG	0.448000													45	146					0	0	0.009718	0	0
COL25A1	84570	broad.mit.edu	37	4	109745371	109745371	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:109745371G>T	ENST00000399132.1	-	35	2334	c.1804C>A	c.(1804-1806)Cca>Aca	p.P602T	COL25A1_ENST00000399126.1_Missense_Mutation_p.P602T|COL25A1_ENST00000399127.1_Missense_Mutation_p.P605T	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	602	Collagen-like 7.					collagen|extracellular space	beta-amyloid binding|heparin binding	p.P602T(2)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TCACCCCGTGGACCAGGGAAG	0.408000													5	55					2.0095e-06	2.72379e-06	0.001984	1	0
CLCA4	22802	broad.mit.edu	37	1	87040315	87040315	+	Silent	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:87040315C>G	ENST00000370563.3	+	10	1602	c.1560C>G	c.(1558-1560)ctC>ctG	p.L520L	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	520						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	p.L520L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CGTTCTTTCTCATCACATGGA	0.418000													17	78					0	0	0.006122	0	0
IRGC	56269	broad.mit.edu	37	19	44223193	44223193	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:44223193G>A	ENST00000244314.5	+	2	682	c.483G>A	c.(481-483)aaG>aaA	p.K161K		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	161						membrane	GTP binding|hydrolase activity, acting on acid anhydrides	p.K161K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				GCCAGGGCAAGAAGTTCTACT	0.667000													6	19					0	0	0.003080	0	0
ATAD5	79915	broad.mit.edu	37	17	29206476	29206476	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:29206476G>C	ENST00000321990.4	+	18	4426	c.4048G>C	c.(4048-4050)Gaa>Caa	p.E1350Q		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1350					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	p.E1350Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TGGCTGCTTTGAAGAAATCAA	0.289000													3	74					0	0	0.004672	0	0
OVCH1	341350	broad.mit.edu	37	12	29639183	29639183	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:29639183C>A	ENST00000318184.5	-	8	990	c.991G>T	c.(991-993)Ggt>Tgt	p.G331C	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	331	CUB 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.G331C(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CCACACATACCCTTTCCTCTC	0.438000													13	60					1.5739e-10	2.41069e-10	0.004007	1	0
C21orf91	54149	broad.mit.edu	37	21	19190600	19190600	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr21:19190600C>G	ENST00000284881.4	-	2	126	c.36G>C	c.(34-36)ttG>ttC	p.L12F	C21orf91_ENST00000493464.1_5'UTR|C21orf91_ENST00000400558.3_Missense_Mutation_p.L12F|C21orf91_ENST00000400559.3_Missense_Mutation_p.L12F	NM_001100420.1|NM_017447.3	NP_001093890.1|NP_059143.3	Q9NYK6	EURL_HUMAN	chromosome 21 open reading frame 91	12								p.L12F(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		TGTCATCATTCAAATCAATGT	0.383000													7	104					0	0	0.003080	0	0
IGKV1-16	28938	broad.mit.edu	37	2	89399584	89399584	+	RNA	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:89399584C>T	ENST00000479981.1	-	0	145																											GATGGTGACTCTGTCTCCTAC	0.478000													21	150					0	0	0.007291	0	0
OR10X1	128367	broad.mit.edu	37	1	158548836	158548836	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:158548836G>T	ENST00000368150.1	-	1	853	c.854C>A	c.(853-855)aCa>aAa	p.T285K		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T285K(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					TGCTATGAGTGTGTCATCTCC	0.448000													14	105					0.000151284	0.000181502	0.001855	1	0
BIRC6	57448	broad.mit.edu	37	2	32640306	32640306	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:32640306G>A	ENST00000421745.2	+	10	2081	c.1947G>A	c.(1945-1947)atG>atA	p.M649I		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	649					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.M649I(1)|p.M621I(1)		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)					TTTCACAGATGAACAATATTA	0.378000													4	42					0	0	0.009096	0	0
NR2C1	7181	broad.mit.edu	37	12	95453709	95453709	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:95453709A>G	ENST00000333003.5	-	4	667	c.337T>C	c.(337-339)Tgc>Cgc	p.C113R	NR2C1_ENST00000393101.3_Missense_Mutation_p.C113R|NR2C1_ENST00000545833.1_5'UTR|NR2C1_ENST00000330677.7_Missense_Mutation_p.C113R	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	113	Required for interaction with KAT2B (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.C113R(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						CATACTACGCAAAGATCAAAA	0.303000													10	52					0	0	0.006214	0	0
MAGEC3	139081	broad.mit.edu	37	X	140969466	140969466	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:140969466A>G	ENST00000298296.1	+	4	793	c.793A>G	c.(793-795)Agt>Ggt	p.S265G	MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000448920.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	265	MAGE 1.							p.S265G(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGAGTCTGAGTGATGAGCA	0.478000													4	204					0	0	0.009096	0	0
UVRAG	7405	broad.mit.edu	37	11	75852456	75852456	+	Nonstop_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:75852456G>T	ENST00000356136.3	+	15	2340	c.2099G>T	c.(2098-2100)tGa>tTa	p.*700L	UVRAG_ENST00000539288.1_Nonstop_Mutation_p.*328L|UVRAG_ENST00000528420.1_Nonstop_Mutation_p.*599L|UVRAG_ENST00000532130.1_Nonstop_Mutation_p.*328L|UVRAG_ENST00000538870.1_Nonstop_Mutation_p.*256L|UVRAG_ENST00000533454.1_Nonstop_Mutation_p.*328L|UVRAG_ENST00000531818.1_Nonstop_Mutation_p.*328L	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	0					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	p.*700L(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						TCCGATAAGTGAAGTGAGCAG	0.463000													4	34					1.23904e-05	1.59927e-05	0.000602	1	0
STRN	6801	broad.mit.edu	37	2	37096801	37096801	+	Silent	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:37096801G>C	ENST00000263918.4	-	11	1403	c.1395C>G	c.(1393-1395)ggC>ggG	p.G465G	STRN_ENST00000379213.2_Silent_p.G416G	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	465					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding	p.G465G(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				GGGCTCGGATGCCATCAAAGT	0.383000													5	36					0	0	0.000602	0	0
IGLV3-9	28804	broad.mit.edu	37	22	23162091	23162091	+	RNA	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr22:23162091C>A	ENST00000390316.2	+	0	299																											AGGCCAGGCCCCTGTGCTGGT	0.582000													4	36					0.00909568	0.00981095	0.009096	1	0
LAMA5	3911	broad.mit.edu	37	20	60889909	60889909	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr20:60889909G>A	ENST00000252999.3	-	60	8208	c.8142C>T	c.(8140-8142)gcC>gcT	p.A2714A		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2714	Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	p.A2714A(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCCAATGCTGGCGGACAGGG	0.672000													11	98					0	0	0.013537	0	0
AVPR2	554	broad.mit.edu	37	X	153171639	153171639	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:153171639C>G	ENST00000358927.2	+	3	888	c.679C>G	c.(679-681)Ctc>Gtc	p.L227V	AVPR2_ENST00000370049.1_Missense_Mutation_p.L227V|AVPR2_ENST00000337474.5_Missense_Mutation_p.L227V			P30518	V2R_HUMAN	arginine vasopressin receptor 2	227					activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity	p.L227V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	CTGCCAGGTGCTCATCTTCCG	0.682000													8	57					0	0	0.008291	0	0
MS4A1	931	broad.mit.edu	37	11	60235735	60235735	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:60235735C>G	ENST00000534668.1	+	7	977	c.688C>G	c.(688-690)Ctg>Gtg	p.L230V	MS4A1_ENST00000389939.2_Missense_Mutation_p.L230V|MS4A1_ENST00000345732.4_Missense_Mutation_p.L230V|MS4A1_ENST00000532073.1_Missense_Mutation_p.L217V|MS4A1_ENST00000528313.1_Missense_Mutation_p.L63V	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	230					B cell activation|immune response	integral to plasma membrane		p.L230V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	CATAGTTCTCCTGTCAGCAGA	0.338000													6	20					0	0	0.001168	0	0
COL6A2	1292	broad.mit.edu	37	21	47546018	47546018	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr21:47546018C>A	ENST00000300527.4	+	26	2393	c.2289C>A	c.(2287-2289)ttC>ttA	p.F763L	COL6A2_ENST00000357838.4_Missense_Mutation_p.F763L|COL6A2_ENST00000409416.1_Missense_Mutation_p.F763L|COL6A2_ENST00000397763.1_Missense_Mutation_p.F763L|COL6A2_ENST00000310645.5_Missense_Mutation_p.F763L	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	763	Nonhelical region.|VWFA 2.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	p.F763L(3)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGGACATGTTCCACGAGAAGC	0.622000													33	178					9.65021e-13	1.53968e-12	0.010818	1	0
HRH4	59340	broad.mit.edu	37	18	22057269	22057269	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr18:22057269G>T	ENST00000256906.4	+	3	1016	c.916G>T	c.(916-918)Gcc>Tcc	p.A306S	HRH4_ENST00000426880.2_Missense_Mutation_p.A218S	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	306						integral to membrane|plasma membrane	histamine receptor activity	p.A306S(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	CAAGTCACTGGCCATTCTCTT	0.438000													65	200					4.02486e-48	6.97895e-48	0.014410	1	0
POLR3E	55718	broad.mit.edu	37	16	22330212	22330212	+	Silent	SNP	C	C	T	rs58061211		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:22330212C>T	ENST00000299853.5	+	13	1098	c.931C>T	c.(931-933)Ctg>Ttg	p.L311L	POLR3E_ENST00000418581.2_Silent_p.L275L|POLR3E_ENST00000564209.1_Silent_p.L311L|POLR3E_ENST00000359210.4_Silent_p.L311L	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	311					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity	p.L311L(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		CGTGGCTGTTCTGCGGGGCAT	0.473000													16	72					0	0	0.008871	0	0
FBN2	2201	broad.mit.edu	37	5	127648325	127648325	+	Splice_Site	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:127648325C>A	ENST00000508053.1	-	43	5854		c.e43+1		FBN2_ENST00000262464.4_Splice_Site			P35556	FBN2_HUMAN	fibrillin 2						bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.?(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTTGTACTTACTGCTATTGAC	0.502000													22	302					9.86323e-18	1.64506e-17	0.003954	1	0
ITGAM	3684	broad.mit.edu	37	16	31277365	31277365	+	Silent	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:31277365C>A	ENST00000544665.3	+	5	395	c.324C>A	c.(322-324)acC>acA	p.T108T	ITGAM_ENST00000287497.8_Silent_p.T108T	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	108					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	p.T108T(1)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GTGGTCCCACCGTGCACCAGA	0.622000													15	36					3.32936e-07	4.66415e-07	0.006122	1	0
GPR19	2842	broad.mit.edu	37	12	12815160	12815160	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:12815160G>A	ENST00000540510.1	-	2	415	c.223C>T	c.(223-225)Ctg>Ttg	p.L75L	GPR19_ENST00000332427.2_Silent_p.L75L			Q15760	GPR19_HUMAN	G protein-coupled receptor 19	75						integral to plasma membrane	G-protein coupled receptor activity	p.L75L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		AACAACCACAGAATCCCAAAG	0.488000													21	73					0	0	0.008871	0	0
OR1S2	219958	broad.mit.edu	37	11	57970865	57970865	+	Silent	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:57970865C>A	ENST00000302592.6	-	1	788	c.789G>T	c.(787-789)ctG>ctT	p.L263L		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L263L(1)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				TTCCGTAGAACAGTAATGCAA	0.502000													15	45					2.31682e-05	2.94083e-05	0.003163	1	0
C14orf1	11161	broad.mit.edu	37	14	76121288	76121288	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:76121288G>A	ENST00000256319.6	-	3	610	c.165C>T	c.(163-165)atC>atT	p.I55I	FLVCR2_ENST00000556241.1_Intron|FLVCR2_ENST00000553587.1_Intron	NM_007176.3	NP_009107.1	Q9UKR5	ERG28_HUMAN	chromosome 14 open reading frame 1	55					sterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|transport vesicle		p.I55I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6		all_epithelial(191;0.125)|all_neural(303;0.13)|Myeloproliferative disorder(585;0.163)		BRCA - Breast invasive adenocarcinoma(234;0.00147)		GCAGCGTCCAGATCCCAAAGG	0.478000											OREG0022817	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	45	179					0	0	0.013114	0	0
RTCA	8634	broad.mit.edu	37	1	100732078	100732078	+	Splice_Site	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:100732078A>T	ENST00000370128.4	+	2	214		c.e2-1		RTCA_ENST00000370126.1_Splice_Site|RTCA_ENST00000260563.4_Splice_Site|RTCA_ENST00000498617.1_Splice_Site	NM_003729.3	NP_003720.1	O00442	RTC1_HUMAN	RNA 3'-terminal phosphate cyclase						RNA processing	mitochondrion|nucleoplasm	ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity	p.?(1)									CAACCTTTGCAGGGCGGCCAG	0.632000													6	36					0	0	0.001168	0	0
ANKS3	124401	broad.mit.edu	37	16	4748910	4748910	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:4748910G>C	ENST00000304283.4	-	13	1736	c.1442C>G	c.(1441-1443)gCc>gGc	p.A481G	ANKS3_ENST00000446014.2_Missense_Mutation_p.A352G|ANKS3_ENST00000585773.1_Missense_Mutation_p.A408G	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	481	SAM.							p.A481G(1)		endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						GCGGGCAATGGCGGACGTCAT	0.652000													5	45					0	0	0.000602	0	0
RTN3	10313	broad.mit.edu	37	11	63487182	63487182	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:63487182G>T	ENST00000377819.5	+	3	1362	c.1208G>T	c.(1207-1209)gGt>gTt	p.G403V	RTN3_ENST00000356000.3_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.G384V|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.G291V|RTN3_ENST00000537981.1_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	403					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane		p.G384V(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						AAATCAACAGGTGATTGGGCA	0.378000													8	56					5.4927e-09	8.08941e-09	0.004482	1	0
OR4K15	81127	broad.mit.edu	37	14	20444457	20444457	+	Silent	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:20444457C>A	ENST00000305051.5	+	1	855	c.780C>A	c.(778-780)gcC>gcA	p.A260A		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A260A(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGCGAAGGCCCGCTCCACAT	0.463000													6	102					8.12818e-05	9.85462e-05	0.001984	1	0
ALDH1A1	216	broad.mit.edu	37	9	75526984	75526984	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr9:75526984C>G	ENST00000297785.3	-	10	1144	c.1090G>C	c.(1090-1092)Gaa>Caa	p.E364Q		NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	364					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity	p.E364Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TTGGCCCCTTCTTTCTTCCCA	0.408000													28	76					0	0	0.006320	0	0
ARGFX	503582	broad.mit.edu	37	3	121305010	121305010	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:121305010G>A	ENST00000334384.3	+	4	521	c.511G>A	c.(511-513)Gtg>Atg	p.V171M		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	171						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.V171M(1)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		TTTTTCTCCTGTGATTTCAGA	0.493000													22	144					0	0	0.002780	0	0
MUC16	94025	broad.mit.edu	37	19	8997117	8997117	+	Splice_Site	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:8997117C>A	ENST00000397910.4	-	60	41282		c.e60+1		MUC16_ENST00000380951.5_Splice_Site	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated						cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.?(2)		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						TAAGGTCTCACCTGAGCAAAG	0.512000													8	54					3.86212e-05	4.81586e-05	0.008291	1	0
SLC45A2	51151	broad.mit.edu	37	5	33947355	33947355	+	Silent	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:33947355C>A	ENST00000382102.3	-	6	1338	c.1281G>T	c.(1279-1281)ctG>ctT	p.L427L	SLC45A2_ENST00000342059.3_Silent_p.L368L|SLC45A2_ENST00000296589.4_Silent_p.L427L	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	427					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		p.L427L(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						ACAGGCTGCACAGGACCAGGG	0.498000													26	157					9.57634e-11	1.47662e-10	0.003330	1	0
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103514690	103514690	+	Nonstop_Mutation	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr13:103514690T>A	ENST00000602836.1	+	16	2467	c.2467T>A	c.(2467-2469)Tga>Aga	p.*823R	ERCC5_ENST00000355739.4_Missense_Mutation_p.D397E	NM_001204425.1	NP_001191354.1	Q59FZ7	Q59FZ7_HUMAN		0					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding	p.D397E(1)									CTCTTGACGATGACGAAGATG	0.527000													5	55					0	0	0.003080	0	0
SDAD1	55153	broad.mit.edu	37	4	76885364	76885364	+	Splice_Site	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:76885364T>A	ENST00000356260.5	-	14	1223	c.1104_splice	c.e14-1	p.I369_splice	SDAD1_ENST00000395711.4_Splice_Site_p.I332_splice|SDAD1_ENST00000513089.1_5'UTR	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	369					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding	p.I369F(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GATTGAATAATCTGAATTGGA	0.368000													9	54					0	0	0.004482	0	0
GPX5	2880	broad.mit.edu	37	6	28499572	28499572	+	Missense_Mutation	SNP	G	G	C	rs149572375		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:28499572G>C	ENST00000412168.2	+	3	348	c.259G>C	c.(259-261)Gag>Cag	p.E87Q	GPX5_ENST00000442674.2_3'UTR|GPX5_ENST00000469384.1_Intron	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	87					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity	p.E87K(1)|p.E87Q(1)		endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	TGCACTCCAGGAGGAGCTGAA	0.468000													77	235					0	0	0.014410	0	0
CD58	965	broad.mit.edu	37	1	117078851	117078851	+	Splice_Site	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:117078851C>G	ENST00000457047.2	-	3	418		c.e3-1		CD58_ENST00000369489.5_Splice_Site|CD58_ENST00000369487.3_Splice_Site	NM_001144822.1	NP_001138294.1	P19256	LFA3_HUMAN	CD58 molecule						blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding	p.?(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		GGAAGAGACTCTGGAAAAAAA	0.363000													7	18					0	0	0.003080	0	0
NRF1	4899	broad.mit.edu	37	7	129350356	129350356	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:129350356C>A	ENST00000393232.1	+	7	1025	c.908C>A	c.(907-909)tCa>tAa	p.S303*	NRF1_ENST00000393231.3_Nonsense_Mutation_p.S303*|NRF1_ENST00000539636.1_Nonsense_Mutation_p.S142*|NRF1_ENST00000223190.4_Nonsense_Mutation_p.S303*|NRF1_ENST00000353868.4_Intron|NRF1_ENST00000311967.2_Nonsense_Mutation_p.S303*|NRF1_ENST00000393230.2_Nonsense_Mutation_p.S303*	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	303	Required for transcriptional activation.				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	p.S303*(1)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						CTTGTACCATCACAGACTGTA	0.468000													27	84					3.73148e-12	5.89214e-12	0.007291	1	0
NAALAD2	10003	broad.mit.edu	37	11	89896521	89896521	+	Silent	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:89896521T>C	ENST00000534061.1	+	10	1349	c.1119T>C	c.(1117-1119)ttT>ttC	p.F373F	NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000525171.1_Silent_p.F280F|NAALAD2_ENST00000321955.4_Silent_p.F340F	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	373	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	p.F373F(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CCTGGGTATTTGGAGCTATTG	0.398000													33	131					0	0	0.012213	0	0
FAM171B	165215	broad.mit.edu	37	2	187605101	187605101	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:187605101T>A	ENST00000304698.5	+	2	588	c.385T>A	c.(385-387)Tac>Aac	p.Y129N		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	129						integral to membrane	DNA binding	p.Y129N(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AAAAGTACCCTACAAATTAGG	0.393000													7	39					0	0	0.003080	0	0
GDF5	8200	broad.mit.edu	37	20	34022057	34022057	+	Missense_Mutation	SNP	T	T	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr20:34022057T>G	ENST00000374372.1	-	4	1659	c.1156A>C	c.(1156-1158)Act>Cct	p.T386P	GDF5_ENST00000374369.3_Missense_Mutation_p.T386P|GDF5OS_ENST00000374375.1_Missense_Mutation_p.V34G			P43026	GDF5_HUMAN	growth differentiation factor 5	386					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	p.V34G(2)|p.T386P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CCCTGGCGAGTGGCCAGTGGG	0.577000													15	143					0	0	0.010504	0	0
RANBP6	26953	broad.mit.edu	37	9	6012421	6012421	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr9:6012421C>A	ENST00000259569.5	-	1	3197	c.3187G>T	c.(3187-3189)Gat>Tat	p.D1063Y		NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	1063					protein transport	cytoplasm|nucleus	binding	p.D1063Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		GCACAAGGATCCTCATAGTTA	0.378000													13	54					7.03913e-09	1.03009e-08	0.013537	1	0
KMT2C	58508	broad.mit.edu	37	7	151945231	151945231	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:151945231G>A	ENST00000355193.2	-	14	2506	c.2288C>T	c.(2287-2289)tCa>tTa	p.S763L	KMT2C_ENST00000262189.6_Missense_Mutation_p.S763L					lysine (K)-specific methyltransferase 2C									p.S763L(2)									TGTCTCAGATGATAACTTTAT	0.418000													21	125					0	0	0.012319	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995831	140995831	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:140995831T>C	ENST00000285879.4	+	4	2927	c.2641T>C	c.(2641-2643)Tcc>Ccc	p.S881P	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	881							protein binding	p.S881P(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					ATATACAAGTTCCTCAGACAC	0.488000										HNSCC(15;0.026)			41	215					0	0	0.014410	0	0
HPGDS	27306	broad.mit.edu	37	4	95239050	95239050	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:95239050A>T	ENST00000295256.5	-	3	290	c.200T>A	c.(199-201)aTa>aAa	p.I67K	HPGDS_ENST00000514774.1_5'UTR	NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	67	GST N-terminal.				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity	p.I67K(1)		breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	ATATCTTGCTATTGCTAGGCT	0.299000													5	51					0	0	0.001168	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769101	31769101	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:31769101G>T	ENST00000240587.4	-	2	1925	c.1598C>A	c.(1597-1599)gCa>gAa	p.A533E		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	533					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A533E(1)|p.A350E(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CTTGTTGATTGCGGATGTCAC	0.507000													28	139					8.58068e-18	1.43375e-17	0.007291	1	0
GPR19	2842	broad.mit.edu	37	12	12814875	12814875	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:12814875G>A	ENST00000540510.1	-	2	700	c.508C>T	c.(508-510)Cct>Tct	p.P170S	GPR19_ENST00000332427.2_Missense_Mutation_p.P170S			Q15760	GPR19_HUMAN	G protein-coupled receptor 19	170						integral to plasma membrane	G-protein coupled receptor activity	p.P170S(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		AAGCTCAGAGGATAGACGATG	0.473000													28	76					0	0	0.012213	0	0
OR5M8	219484	broad.mit.edu	37	11	56258197	56258197	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:56258197T>C	ENST00000327216.2	-	1	674	c.650A>G	c.(649-651)tAc>tGc	p.Y217C		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y217C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					AATGTAAAGGTAGGAAATACA	0.408000													5	63					0	0	0.001168	0	0
REPIN1	29803	broad.mit.edu	37	7	150069696	150069696	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:150069696G>A	ENST00000397281.2	+	4	1855	c.1366G>A	c.(1366-1368)Gat>Aat	p.D456N	REPIN1_ENST00000489432.2_Missense_Mutation_p.D513N|REPIN1_ENST00000444957.1_Missense_Mutation_p.D456N|REPIN1_ENST00000425389.2_Missense_Mutation_p.D456N|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000540729.1_Missense_Mutation_p.D456N	NM_013400.3	NP_037532.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	456					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding	p.D456N(2)|p.D513N(2)		cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			CCACGCCCCCGATCGGCCCTT	0.731000													4	23					0	0	0.009096	0	0
NOC3L	64318	broad.mit.edu	37	10	96099595	96099595	+	Silent	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr10:96099595C>T	ENST00000371361.3	-	17	1963	c.1863G>A	c.(1861-1863)caG>caA	p.Q621Q	NOC3L_ENST00000371350.1_Silent_p.Q621Q|NOC3L_ENST00000543788.1_Silent_p.Q359Q	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	621						nuclear speck|nucleolus	binding	p.Q621Q(1)		endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				CAAGAGCTCGCTGCTGAGAAA	0.418000													14	43					0	0	0.003163	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503371	140503371	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:140503371G>T	ENST00000194152.1	+	1	1791	c.1791G>T	c.(1789-1791)caG>caT	p.Q597H		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		597	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.Q597H(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCGGGCCAGAACGCCTGGC	0.716000													13	52					2.61681e-11	4.0554e-11	0.002450	1	0
HSP90AB2P	391634	broad.mit.edu	37	4	13338207	13338207	+	RNA	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:13338207C>A	ENST00000602906.1	+	0	225																				kidney(3)|lung(1)	4						CCTTCTATTCCAACAAGGAGA	0.453000													6	67					1.26484e-09	1.90556e-09	0.003080	1	0
CDH7	1005	broad.mit.edu	37	18	63489352	63489352	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr18:63489352G>C	ENST00000536984.2	+	5	1355	c.661G>C	c.(661-663)Gag>Cag	p.E221Q	CDH7_ENST00000397968.2_Missense_Mutation_p.E221Q|CDH7_ENST00000323011.3_Missense_Mutation_p.E221Q			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	221	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E221Q(2)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CATGGATAGAGAGGCTAAAGA	0.398000													8	24					0	0	0.003080	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140754602	140754602	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:140754602G>T	ENST00000517434.1	+	1	952	c.952G>T	c.(952-954)Ggt>Tgt	p.G318C	PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1												p.G318C(1)		breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTATGAGCTGGGTGTTGAAGC	0.398000													37	157					7.04047e-22	1.20713e-21	0.005524	1	0
CCDC30	728621	broad.mit.edu	37	1	43119551	43119551	+	Nonsense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:43119551C>G	ENST00000428554.2	+	23	3347	c.2204C>G	c.(2203-2205)tCa>tGa	p.S735*	CCDC30_ENST00000507855.1_Nonsense_Mutation_p.S524*|CCDC30_ENST00000390640.4_Nonsense_Mutation_p.S524*|CCDC30_ENST00000340612.4_Nonsense_Mutation_p.S735*|CCDC30_ENST00000342022.4_Nonsense_Mutation_p.S735*			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	735								p.S735*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GAGATCAAGTCAAAAGAAGCA	0.398000													6	61					0	0	0.003080	0	0
GPATCH8	23131	broad.mit.edu	37	17	42475265	42475265	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:42475265G>C	ENST00000434000.1	-	9	4228	c.3946C>G	c.(3946-3948)Cac>Gac	p.H1316D	GPATCH8_ENST00000591680.1_Missense_Mutation_p.H1394D			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1394						intracellular	nucleic acid binding|zinc ion binding	p.H1394D(1)		breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GGGTGAGGGTGAATGCCGATG	0.572000													8	27					0	0	0.006214	0	0
PCDHA1	56147	broad.mit.edu	37	5	140166214	140166214	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:140166214G>A	ENST00000504120.2	+	1	339	c.339G>A	c.(337-339)ccG>ccA	p.P113P	PCDHA1_ENST00000394633.3_Silent_p.P113P|PCDHA1_ENST00000378133.3_Silent_p.P113P	NM_018900.2	NP_061723.1												p.P113P(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGACAGGCCGCTGCAGGTTT	0.498000													10	73					0	0	0.006214	0	0
WDFY1	57590	broad.mit.edu	37	2	224763777	224763777	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:224763777C>A	ENST00000233055.4	-	6	598	c.496G>T	c.(496-498)Gac>Tac	p.D166Y		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	166						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding	p.D166Y(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		TACTGAGTGTCAAAGTCATAT	0.423000													10	62					0.00621372	0.00675788	0.006214	1	0
RICTOR	253260	broad.mit.edu	37	5	39074222	39074222	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:39074222G>C	ENST00000357387.3	-	2	118	c.88C>G	c.(88-90)Ctg>Gtg	p.L30V	RICTOR_ENST00000296782.5_Missense_Mutation_p.L30V	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	30					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	p.L30V(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CCTCGGGTCAGATCCAGCGGG	0.741000													9	13					0	0	0.008291	0	0
OTP	23440	broad.mit.edu	37	5	76932657	76932657	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:76932657A>G	ENST00000306422.3	-	2	1574	c.436T>C	c.(436-438)Tcc>Ccc	p.S146P	OTP_ENST00000515716.1_5'UTR	NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN	orthopedia homeobox	146						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S146P(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		TGCACTCGGGACTCGGTCAGC	0.612000													4	74					0	0	0.009096	0	0
BRINP3	339479	broad.mit.edu	37	1	190067370	190067370	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:190067370C>A	ENST00000367462.3	-	8	2310	c.2079G>T	c.(2077-2079)caG>caT	p.Q693H	FAM5C_ENST00000534846.1_Missense_Mutation_p.Q591H|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		693						extracellular region		p.Q693H(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					CCTGGGATCCCTGAGTATAGG	0.448000													8	67					0.00307968	0.00340991	0.003080	1	0
HSPH1	10808	broad.mit.edu	37	13	31724148	31724148	+	Missense_Mutation	SNP	T	T	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr13:31724148T>G	ENST00000320027.5	-	8	1424	c.1080A>C	c.(1078-1080)aaA>aaC	p.K360N	HSPH1_ENST00000380406.5_Missense_Mutation_p.K319N|HSPH1_ENST00000429785.2_Missense_Mutation_p.K179N|HSPH1_ENST00000445273.2_Missense_Mutation_p.K362N|HSPH1_ENST00000380405.4_Missense_Mutation_p.K360N	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	360					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	p.K360N(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TGCTAATATCTTTTCCAAAGA	0.408000													18	80					0	0	0.007413	0	0
FAM47B	170062	broad.mit.edu	37	X	34962493	34962493	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:34962493C>A	ENST00000329357.5	+	1	1581	c.1545C>A	c.(1543-1545)gaC>gaA	p.D515E		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	515								p.D515E(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TGGAGCTAGACGACATGGATG	0.493000													15	67					0.00400662	0.00442559	0.004007	1	0
CPS1	1373	broad.mit.edu	37	2	211464141	211464141	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:211464141G>T	ENST00000233072.5	+	14	1601	c.1405G>T	c.(1405-1407)Gtc>Ttc	p.V469F	CPS1_ENST00000430249.2_Missense_Mutation_p.V475F|CPS1_ENST00000451903.2_Missense_Mutation_p.V18F	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	469					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.V469F(1)|p.V475F(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CATTGCATCAGTCCAGACCAA	0.418000													22	88					1.10513e-12	1.76017e-12	0.014323	1	0
POTEG	404785	broad.mit.edu	37	14	19553819	19553819	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:19553819G>A	ENST00000409832.3	+	1	455	c.403G>A	c.(403-405)Gtc>Atc	p.V135I		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	135								p.V135I(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GAGGTACCACGTCCGTCGAGA	0.582000													7	271					0	0	0.003163	0	0
SYMPK	8189	broad.mit.edu	37	19	46352129	46352129	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:46352129C>T	ENST00000245934.7	-	6	549	c.305G>A	c.(304-306)cGa>cAa	p.R102Q		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	102	Interaction with HSF1.				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	p.R102Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CTCAATGTCTCGCTTGCTGAG	0.522000													21	66					0	0	0.014323	0	0
PCDHB1	29930	broad.mit.edu	37	5	140433275	140433275	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:140433275G>A	ENST00000306549.3	+	1	2297	c.2220G>A	c.(2218-2220)ctG>ctA	p.L740L		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		740					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L740L(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTAACAACCTGGTACAAGGAC	0.373000													12	72					0	0	0.002450	0	0
OR2B2	81697	broad.mit.edu	37	6	27879654	27879654	+	Silent	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:27879654G>T	ENST00000303324.2	-	1	520	c.444C>A	c.(442-444)tcC>tcA	p.S148S		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S148S(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						CACTAATCCAGGATGCAGCTG	0.468000													11	59					0.00829132	0.00900676	0.008291	1	0
RYR1	6261	broad.mit.edu	37	19	38976798	38976798	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:38976798G>C	ENST00000355481.4	+	34	5634	c.5503G>C	c.(5503-5505)Gag>Cag	p.E1835Q	RYR1_ENST00000360985.3_Missense_Mutation_p.E1835Q|RYR1_ENST00000359596.3_Missense_Mutation_p.E1835Q	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1835	6 X approximate repeats.				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	p.E1835Q(1)		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)	GGGCTCCGTGGAGTTCCAGTT	0.637000													19	145					0	0	0.008871	0	0
NYAP2	57624	broad.mit.edu	37	2	226446722	226446722	+	Silent	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:226446722C>A	ENST00000272907.6	+	4	1002	c.589C>A	c.(589-591)Cga>Aga	p.R197R	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	197								p.R197*(1)|p.R197R(1)									CAAACCGAAGCGAAATCCGAA	0.498000													22	181					1.50039e-11	2.34899e-11	0.012319	1	0
SCN2A	6326	broad.mit.edu	37	2	166201146	166201146	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:166201146G>C	ENST00000357398.3	+	16	2934	c.2644G>C	c.(2644-2646)Gga>Cga	p.G882R	SCN2A_ENST00000283256.6_Missense_Mutation_p.G882R|SCN2A_ENST00000375437.2_Missense_Mutation_p.G882R|SCN2A_ENST00000375427.2_Missense_Mutation_p.G882R			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	882					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G882R(2)		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)	GGGGGCTCTAGGAAACCTCAC	0.423000													13	101					0	0	0.001855	0	0
EPHA6	285220	broad.mit.edu	37	3	97167456	97167456	+	Silent	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:97167456C>A	ENST00000389672.5	+	7	1814	c.1776C>A	c.(1774-1776)ccC>ccA	p.P592P	EPHA6_ENST00000502694.1_5'UTR|EPHA6_ENST00000442602.2_5'UTR|EPHA6_ENST00000514100.1_5'UTR	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	497						integral to plasma membrane	ATP binding|ephrin receptor activity	p.P498P(2)|p.P592P(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CCAAAGCCCCCAGTGTCATCA	0.448000													10	79					4.68919e-08	6.74392e-08	0.008291	1	0
SLFNL1	200172	broad.mit.edu	37	1	41486213	41486213	+	Silent	SNP	G	G	C	rs146820397	byFrequency	TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:41486213G>C	ENST00000359345.1	-	1	2696	c.120C>G	c.(118-120)ctC>ctG	p.L40L	SLFNL1_ENST00000439569.2_Silent_p.L40L|SLFNL1_ENST00000372611.1_Silent_p.L40L|SLFNL1_ENST00000397197.2_Silent_p.L40L|SLFNL1_ENST00000372613.2_Silent_p.L40L|SLFNL1_ENST00000302946.8_Silent_p.L40L	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	40							ATP binding	p.L40L(1)		endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				GAGCCTCCTCGAGGTCAGAGT	0.637000													12	71					0	0	0.010729	0	0
TLL1	7092	broad.mit.edu	37	4	167020572	167020572	+	Nonsense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:167020572C>T	ENST00000061240.2	+	20	3447	c.2800C>T	c.(2800-2802)Cag>Tag	p.Q934*	TLL1_ENST00000507499.1_Nonsense_Mutation_p.Q957*	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	934	CUB 5.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.Q934*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ATTATCCTTCCAGACATTTGA	0.468000													8	172					0	0	0.004482	0	0
SH3TC2	79628	broad.mit.edu	37	5	148406269	148406269	+	Missense_Mutation	SNP	C	C	T	rs145528276	byFrequency	TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:148406269C>T	ENST00000394358.2	-	12	3133	c.2681G>A	c.(2680-2682)tGt>tAt	p.C894Y	SH3TC2_ENST00000515425.1_Silent_p.V973V|SH3TC2_ENST00000512049.1_Silent_p.V966V|SH3TC2_ENST00000538184.1_Silent_p.V520V			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	0							binding	p.V973V(1)|p.C894Y(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTTTGGGGACACAGAGCTGT	0.542000													10	191					0	0	0.008291	0	0
CLUL1	27098	broad.mit.edu	37	18	627251	627251	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr18:627251C>T	ENST00000581619.1	+	5	1500	c.653C>T	c.(652-654)tCt>tTt	p.S218F	CLUL1_ENST00000579494.1_Missense_Mutation_p.S193F|CLUL1_ENST00000338387.7_Missense_Mutation_p.S193F|CLUL1_ENST00000540035.1_Missense_Mutation_p.S245F|CLUL1_ENST00000400606.2_Missense_Mutation_p.S193F			Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	193					cell death	extracellular region		p.S193F(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						GATGTGAATTCTCTCTTTAAC	0.408000													44	168					0	0	0.014410	0	0
MYH7	4625	broad.mit.edu	37	14	23888489	23888489	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:23888489T>A	ENST00000355349.3	-	29	4031	c.3869A>T	c.(3868-3870)cAg>cTg	p.Q1290L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1290					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.Q1290L(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTCATCCAGCTGCCGGGACAG	0.597000													9	51					0	0	0.006214	0	0
HDAC2	3066	broad.mit.edu	37	6	114279889	114279889	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:114279889G>A	ENST00000519065.1	-	3	583	c.207C>T	c.(205-207)caC>caT	p.H69H	HDAC2_ENST00000519108.1_Silent_p.H39H|HDAC2_ENST00000398283.2_Silent_p.H163H|HDAC2_ENST00000368632.2_Silent_p.H39H			Q92769	HDAC2_HUMAN	histone deacetylase 2	69	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	p.H163H(1)|p.H69H(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	ACTCATCACTGTGATATTTTG	0.363000													13	84					0	0	0.013537	0	0
TEP1	7011	broad.mit.edu	37	14	20864787	20864787	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:20864787T>A	ENST00000262715.5	-	10	1692	c.1652A>T	c.(1651-1653)cAg>cTg	p.Q551L	TEP1_ENST00000556935.1_Missense_Mutation_p.Q443L	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	551	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.Q551L(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TACCGCATGCTGGAGTCTCTG	0.577000													5	21					0	0	0.000602	0	0
ATP2B2	491	broad.mit.edu	37	3	10430011	10430011	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:10430011A>T	ENST00000397077.1	-	8	1432	c.857T>A	c.(856-858)tTt>tAt	p.F286Y	ATP2B2_ENST00000383800.4_Missense_Mutation_p.F286Y|ATP2B2_ENST00000360273.2_Missense_Mutation_p.F286Y|ATP2B2_ENST00000352432.4_Missense_Mutation_p.F286Y|ATP2B2_ENST00000343816.4_Missense_Mutation_p.F286Y			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	286					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	p.F286Y(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CAGGAGGGTAAAGATGATGCC	0.527000													37	201					0	0	0.006230	0	0
RNF26	79102	broad.mit.edu	37	11	119206115	119206115	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:119206115G>A	ENST00000311413.4	+	1	879	c.283G>A	c.(283-285)Gag>Aag	p.E95K		NM_032015.4	NP_114404.1	Q9BY78	RNF26_HUMAN	ring finger protein 26	95	Leu-rich.						zinc ion binding	p.E95K(1)		cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		CTCTGGCCTAGAGAGCCTAAA	0.602000													26	167					0	0	0.005443	0	0
OR1M1	125963	broad.mit.edu	37	19	9204347	9204347	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:9204347C>A	ENST00000429566.3	+	1	493	c.427C>A	c.(427-429)Ctg>Atg	p.L143M		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L143M(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCTCTGTCGCCTGCTGGTCGG	0.587000													11	77					0.000978159	0.00111807	0.010729	1	0
TEP1	7011	broad.mit.edu	37	14	20841881	20841881	+	Nonsense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:20841881G>C	ENST00000262715.5	-	45	6600	c.6560C>G	c.(6559-6561)tCa>tGa	p.S2187*	TEP1_ENST00000545983.1_Nonsense_Mutation_p.S525*|TEP1_ENST00000556935.1_Nonsense_Mutation_p.S2079*	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2187					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.S2187*(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AATGGGTCCTGAGTGAGCAGG	0.597000													3	71					0	0	0.009096	0	0
C2orf53	339779	broad.mit.edu	37	2	27360638	27360638	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:27360638C>A	ENST00000335524.3	-	3	1085	c.560G>T	c.(559-561)gGg>gTg	p.G187V		NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN	chromosome 2 open reading frame 53	187								p.G187V(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCAGGGGACCCGGACCCAGT	0.647000													5	54					5.9392e-07	8.26989e-07	0.001168	1	0
TTN	7273	broad.mit.edu	37	2	179448526	179448526	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:179448526C>T	ENST00000589042.1	-	312	65607	c.65383G>A	c.(65383-65385)Gaa>Aaa	p.E21795K	TTN_ENST00000342992.6_Missense_Mutation_p.E19227K|TTN_ENST00000359218.5_Missense_Mutation_p.E12855K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E12922K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E20154K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E12730K|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20154	Fibronectin type-III 58.			PGPVLN -> ARPSPQ (in Ref. 13; CAA45939).			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E19227K(1)|p.E12922K(1)|p.E19225K(1)|p.E12855K(1)|p.E12730K(1)		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)			TTGCAAGCTTCTACGAAATAG	0.463000													6	22					0	0	0.001984	0	0
C8orf76	84933	broad.mit.edu	37	8	124251334	124251334	+	Silent	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:124251334G>C	ENST00000276704.4	-	2	219	c.168C>G	c.(166-168)ctC>ctG	p.L56L	C8orf76_ENST00000521310.1_5'UTR|ZHX1-C8ORF76_ENST00000357082.4_Silent_p.L24L	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	56							binding	p.L56L(1)		NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TGAATTTCTTGAGAGTCAGCA	0.398000													7	180					0	0	0.004482	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420820	55420820	+	Silent	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:55420820C>T	ENST00000242994.3	+	2	975	c.597C>T	c.(595-597)gtC>gtT	p.V199V		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	199					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						CCATCTCTGTCCACAACTTCA	0.502000													10	115					0	0	0.010729	0	0
VPS13B	157680	broad.mit.edu	37	8	100789079	100789079	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:100789079G>A	ENST00000358544.2	+	41	7510	c.7399G>A	c.(7399-7401)Gtt>Att	p.V2467I	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.V2442I	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2467					protein transport			p.V2467I(1)|p.V2442I(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTGTACCAGAGTTGACTCCTG	0.478000													10	158					0	0	0.006214	0	0
GSTM5	2949	broad.mit.edu	37	1	110256121	110256121	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:110256121G>T	ENST00000369813.1	+	2	975	c.70G>T	c.(70-72)Gat>Tat	p.D24Y	GSTM5_ENST00000369812.5_Missense_Mutation_p.D84Y|GSTM5_ENST00000256593.3_Missense_Mutation_p.D65Y			P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	65	GST N-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity	p.D65Y(1)		NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	CTACTTGATTGATGGGGCTCA	0.587000													24	140					2.44723e-14	3.98054e-14	0.004656	1	0
ST6GAL2	84620	broad.mit.edu	37	2	107460128	107460128	+	Silent	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:107460128G>T	ENST00000409382.3	-	2	916	c.306C>A	c.(304-306)tcC>tcA	p.S102S	ST6GAL2_ENST00000409087.3_Silent_p.S102S|ST6GAL2_ENST00000361686.4_Silent_p.S102S	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	102					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.S102S(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						ACCCATCTTGGGACTGGGCCC	0.587000													21	89					2.37509e-13	3.82931e-13	0.010504	1	0
ZNF775	285971	broad.mit.edu	37	7	150094415	150094415	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:150094415C>G	ENST00000329630.5	+	3	953	c.846C>G	c.(844-846)atC>atG	p.I282M		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I282M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		gccAGTTCATCTGCAACGAGT	0.731000													3	18					0	0	0.009096	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77912982	77912982	+	Silent	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:77912982G>T	ENST00000321110.1	-	2	1231	c.936C>A	c.(934-936)ctC>ctA	p.L312L		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	312							nucleic acid binding|zinc ion binding	p.L312L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						AAGTATCCTGGAGCACAGGTA	0.478000													3	17					0.004672	0.00511139	0.004672	1	0
CNGB1	1258	broad.mit.edu	37	16	57994775	57994775	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:57994775C>T	ENST00000564448.1	-	8	563	c.503G>A	c.(502-504)aGa>aAa	p.R168K	CNGB1_ENST00000251102.8_Missense_Mutation_p.R168K|CNGB1_ENST00000311183.4_Missense_Mutation_p.R168K			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	168					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	p.R168K(1)		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						AGGAAGCACTCTTTCCAGATT	0.627000													6	37					0	0	0.001984	0	0
MAP2	4133	broad.mit.edu	37	2	210558419	210558419	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:210558419G>A	ENST00000360351.4	+	7	2031	c.1525G>A	c.(1525-1527)Gat>Aat	p.D509N	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.D505N	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	509					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	p.D509N(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AGCAGTTACAGATTCAGCCAT	0.428000													8	80					0	0	0.004482	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110451183	110451183	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:110451183T>C	ENST00000378402.5	+	32	3922	c.3818T>C	c.(3817-3819)aTg>aCg	p.M1273T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1273	IPT/TIG 6.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.M1275T(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACACAAAACATGGCGGTGTAT	0.338000										HNSCC(38;0.096)			4	42					0	0	0.009096	0	0
MPHOSPH8	54737	broad.mit.edu	37	13	20237249	20237249	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr13:20237249G>A	ENST00000361479.5	+	9	2070	c.2002G>A	c.(2002-2004)Gag>Aag	p.E668K	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.E668K	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	668					cell cycle	cytoplasm|nucleus		p.E668K(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		AAGCAATGGTGAGACTGCACT	0.438000													31	146					0	0	0.004289	0	0
DRC1	92749	broad.mit.edu	37	2	26673529	26673529	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:26673529C>A	ENST00000288710.2	+	13	1743	c.1669C>A	c.(1669-1671)Cgt>Agt	p.R557S		NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)									p.R557S(1)									TCGAGCTCACCGTTTATCTTC	0.383000													9	97					0.000442599	0.000511634	0.006214	1	0
PCDHA3	56145	broad.mit.edu	37	5	140183206	140183206	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:140183206A>T	ENST00000532566.2	+	1	2424	c.2424A>T	c.(2422-2424)aaA>aaT	p.K808N	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron	NM_031497.1	NP_113685.1												p.K808N(1)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTTCCAAAATGTCTTTGTT	0.353000													10	39					0	0	0.008291	0	0
SCRIB	23513	broad.mit.edu	37	8	144874231	144874231	+	Silent	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:144874231C>A	ENST00000356994.2	-	33	4593	c.4587G>T	c.(4585-4587)acG>acT	p.T1529T	SCRIB_ENST00000377533.3_Silent_p.T1448T|SCRIB_ENST00000320476.3_Silent_p.T1529T	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1529					activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	p.T1529T(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGGGCCCCCGCGTGCCCCGGC	0.697000													3	6					0.004672	0.00511139	0.004672	1	0
TC2N	123036	broad.mit.edu	37	14	92251584	92251584	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:92251584T>C	ENST00000435962.2	-	11	1607	c.1284A>G	c.(1282-1284)atA>atG	p.I428M	TC2N_ENST00000556018.1_Missense_Mutation_p.I364M|TC2N_ENST00000360594.5_Missense_Mutation_p.I428M|TC2N_ENST00000340892.5_Missense_Mutation_p.I428M	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	428	C2.					nucleus		p.I364M(1)|p.I428M(1)		breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		TTTCACTCTGTATAAGTGGAA	0.383000													39	178					0	0	0.010771	0	0
PCDHA6	56142	broad.mit.edu	37	5	140207688	140207688	+	Silent	SNP	C	C	A	rs17844300		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:140207688C>A	ENST00000529310.1	+	1	126	c.12C>A	c.(10-12)acC>acA	p.T4T	PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.T4T|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1												p.T4T(2)		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)			TGGTGTTTACCCCGGAGGATA	0.473000													26	144					1.75199e-13	2.83464e-13	0.007291	1	0
LILRB2	10288	broad.mit.edu	37	19	54783404	54783404	+	Missense_Mutation	SNP	C	C	A	rs140970769		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:54783404C>A	ENST00000391748.1	-	5	581	c.454G>T	c.(454-456)Ggc>Tgc	p.G152C	LILRB2_ENST00000434421.1_Missense_Mutation_p.G36C|LILRB2_ENST00000391749.4_Missense_Mutation_p.G152C|LILRB2_ENST00000314446.5_Missense_Mutation_p.G152C|LILRB2_ENST00000391746.1_Missense_Mutation_p.G152C	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	152	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	p.G152C(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGAATGAAGCCGCCAAATGCC	0.612000													14	65					1.52009e-12	2.40856e-12	0.003163	1	0
COL5A1	1289	broad.mit.edu	37	9	137688239	137688239	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr9:137688239G>T	ENST00000371817.3	+	35	3233	c.2819G>T	c.(2818-2820)gGc>gTc	p.G940V		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	940	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.G940V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGAGGTGACGGCCCAGCTGGC	0.572000													13	68					4.7546e-09	7.02489e-09	0.004007	1	0
PAIP2	51247	broad.mit.edu	37	5	138700367	138700367	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:138700367G>T	ENST00000394795.2	+	3	1244	c.253G>T	c.(253-255)Gac>Tac	p.D85Y	PAIP2_ENST00000510080.1_Missense_Mutation_p.D85Y|PAIP2_ENST00000265192.4_Missense_Mutation_p.D85Y|PAIP2_ENST00000511706.1_Intron|PAIP2_ENST00000503553.2_3'UTR			Q9BPZ3	PAIP2_HUMAN	poly(A) binding protein interacting protein 2	85					negative regulation of translational initiation	cytoplasm	protein binding|translation repressor activity	p.D85Y(1)		kidney(1)|large_intestine(2)|lung(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ACAAACTATGGACCAAATCCA	0.378000													13	83					0.00136819	0.00154279	0.013537	1	0
ZNF790	388536	broad.mit.edu	37	19	37309614	37309614	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:37309614G>C	ENST00000356725.4	-	5	1752	c.1632C>G	c.(1630-1632)atC>atG	p.I544M	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	544					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I544M(1)		biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GTGAACCCCAGATAAAAGATT	0.393000													21	124					0	0	0.014323	0	0
SCN5A	6331	broad.mit.edu	37	3	38592196	38592196	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:38592196G>A	ENST00000413689.1	-	28	5860	c.5667C>T	c.(5665-5667)taC>taT	p.Y1889Y	SCN5A_ENST00000414099.2_Silent_p.Y1871Y|SCN5A_ENST00000455624.2_Silent_p.Y1856Y|SCN5A_ENST00000450102.2_Silent_p.Y1835Y|SCN5A_ENST00000443581.1_Silent_p.Y1888Y|SCN5A_ENST00000333535.4_Silent_p.Y1889Y|SCN5A_ENST00000425664.1_Silent_p.Y1871Y|SCN5A_ENST00000451551.2_Silent_p.Y1835Y|SCN5A_ENST00000423572.2_Silent_p.Y1888Y|SCN5A_ENST00000449557.2_Silent_p.Y1835Y	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1889					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	p.Y1889Y(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGATGGGCTCGTAGGAGATCT	0.587000													19	129					0	0	0.003330	0	0
TPBG	7162	broad.mit.edu	37	6	83075585	83075585	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:83075585G>A	ENST00000369750.3	+	2	1524	c.907G>A	c.(907-909)Gca>Aca	p.A303T	TPBG_ENST00000535040.1_Missense_Mutation_p.A303T|TPBG_ENST00000543496.1_Missense_Mutation_p.A303T			Q13641	TPBG_HUMAN	trophoblast glycoprotein	303	LRRCT.				cell adhesion	integral to plasma membrane		p.A303T(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		CTGCCACATGGCAGACATGGT	0.542000													12	53					0	0	0.010729	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76569454	76569454	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:76569454C>T	ENST00000307431.8	+	19	3150	c.2765C>T	c.(2764-2766)aCc>aTc	p.T922I	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.T850I|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.T874I|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.T926I|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	923	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.T850I(1)|p.T922I(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GGAACGGCCACCAGACAGAGA	0.478000													8	41					0	0	0.006214	0	0
FSTL4	23105	broad.mit.edu	37	5	132569153	132569153	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:132569153G>T	ENST00000265342.7	-	8	1220	c.971C>A	c.(970-972)tCc>tAc	p.S324Y	FSTL4_ENST00000507112.1_5'UTR	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	324	Ig-like 1.					extracellular region	calcium ion binding	p.S324Y(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCGTGGCCGGAAGCATGGCA	0.542000													11	52					7.03913e-09	1.03009e-08	0.013537	1	0
SYMPK	8189	broad.mit.edu	37	19	46355610	46355610	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:46355610C>T	ENST00000245934.7	-	5	503	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	87	Interaction with HSF1.				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	p.E87K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		TTTCGCACTTCGATTGACTTG	0.542000													42	116					0	0	0.009718	0	0
CCDC40	55036	broad.mit.edu	37	17	78022479	78022479	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:78022479G>T	ENST00000397545.4	+	5	801	c.774G>T	c.(772-774)atG>atT	p.M258I	CCDC40_ENST00000374876.4_Missense_Mutation_p.M258I|CCDC40_ENST00000269318.5_Missense_Mutation_p.M258I|CCDC40_ENST00000374877.3_Missense_Mutation_p.M258I	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	258					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		p.M258I(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGGGGGCCATGGCAGAGAGAG	0.642000													6	40					0.000157383	0.000187838	0.003080	1	0
GPR19	2842	broad.mit.edu	37	12	12815116	12815116	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:12815116G>A	ENST00000540510.1	-	2	459	c.267C>T	c.(265-267)gtC>gtT	p.V89V	GPR19_ENST00000332427.2_Silent_p.V89V			Q15760	GPR19_HUMAN	G protein-coupled receptor 19	89						integral to plasma membrane	G-protein coupled receptor activity	p.V89V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		TCCTATGGATGACCAAACAAA	0.507000													15	52					0	0	0.004007	0	0
GRHL1	29841	broad.mit.edu	37	2	10136084	10136090	+	Frame_Shift_Del	DEL	AAGAACC	AAGAACC	-			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:10136084_10136090delAAGAACC	ENST00000324907.9	+	13	1713_1719	c.1577_1583delAAGAACC	c.(1576-1584)gafs	p.EEP526fs	GRHL1_ENST00000405379.2_Frame_Shift_Del_p.EEP526fs|GRHL1_ENST00000324883.5_Frame_Shift_Del_p.EEP337fs|GRHL1_ENST00000480736.1_5'UTR	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	526					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		GCCCGGATAGAAGAACCAAAGAGAGGT	0.449													25	186	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179395922	179395931	+	Frame_Shift_Del	DEL	GACGGTCATG	GACGGTCATG	-			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:179395922_179395931delGACGGTCATG	ENST00000589042.1	-	358	105635_105644	c.105411_105420delCATGACCGTC	c.(105409-105420)tcfs	p.SMTV35137fs	TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.SMTV26264fs|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.SMTV26072fs|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.SMTV32569fs|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.SMTV26197fs|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.SMTV33496fs|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33496							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)			CGCCCTCGTAGACGGTCATGGACCGTGGCT	0.481													28	191	---	---	---	---					
TRIP12	9320	broad.mit.edu	37	2	230661474	230661475	+	Frame_Shift_Ins	INS	-	-	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:230661474_230661475insA	ENST00000283943.5	-	24	3601_3602	c.3423_3424insT	c.(3421-3426)cttagafs	p.R1142fs	TRIP12_ENST00000389045.3_Frame_Shift_Ins_p.R872fs|TRIP12_ENST00000543084.1_3'UTR|TRIP12_ENST00000389044.4_Frame_Shift_Ins_p.R1190fs	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1142					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CGGATTTCTACAAGGCACTCAG	0.361													8	84	---	---	---	---					
ANKMY1	51281	broad.mit.edu	37	2	241496731	241496731	+	Frame_Shift_Del	DEL	G	G	-			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:241496731delG	ENST00000401804.1	-	2	160	c.22delC	c.(22-24)ttfs	p.L8fs	ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000406958.1_Frame_Shift_Del_p.L8fs|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000403283.1_Frame_Shift_Del_p.L87fs|ANKMY1_ENST00000373318.2_Frame_Shift_Del_p.L8fs|ANKMY1_ENST00000391987.1_5'UTR|ANKMY1_ENST00000373320.4_5'UTR|ANKMY1_ENST00000361678.4_Frame_Shift_Del_p.L8fs|ANKMY1_ENST00000272972.3_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000405523.3_Frame_Shift_Del_p.L8fs			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	0							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		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;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TCTAAGCTAAGGGAGGCATGG	0.677													8	124	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127681105	127681105	+	Frame_Shift_Del	DEL	C	C	-			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:127681105delC	ENST00000508053.1	-	30	4135	c.3161delG	c.(3160-3162)ccfs	p.R1054fs	FBN2_ENST00000262464.4_Frame_Shift_Del_p.R1054fs|FBN2_ENST00000508989.1_Frame_Shift_Del_p.R1021fs			P35556	FBN2_HUMAN	fibrillin 2	1054					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCCAGCCCCGCGGGGGCACAG	0.622													16	112	---	---	---	---					
DNAH8	1769	broad.mit.edu	37	6	38750806	38750806	+	Frame_Shift_Del	DEL	G	G	-	rs141715565		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:38750806delG	ENST00000359357.3	+	15	1889	c.1635delG	c.(1633-1635)ccfs	p.P545fs	DNAH8_ENST00000449981.2_Frame_Shift_Del_p.P762fs|DNAH8_ENST00000441566.1_Frame_Shift_Del_p.P545fs					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TATCAAGTCCGGACGGTAAAG	0.368													8	73	---	---	---	---					
LAT2	7462	broad.mit.edu	37	7	73630349	73630357	+	In_Frame_Del	DEL	TGGTGCTGT	TGGTGCTGT	-			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:73630349_73630357delTGGTGCTGT	ENST00000460943.1	+	3	933_941	c.44_52delTGGTGCTGT	c.(43-54)ctg>c	p.LVLL15del	LAT2_ENST00000344995.5_In_Frame_Del_p.LVLL15del|LAT2_ENST00000398475.1_In_Frame_Del_p.LVLL15del|LAT2_ENST00000275635.7_In_Frame_Del_p.LVLL15del	NM_032464.2	NP_115853.2	Q9GZY6	NTAL_HUMAN	linker for activation of T cells family, member 2	15					B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6						GCAGCGCTGCTGGTGCTGTTGGGGGTGGC	0.632													13	116	---	---	---	---					
FAM131B	9715	broad.mit.edu	37	7	143053878	143053878	+	Frame_Shift_Del	DEL	C	C	-			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:143053878delC	ENST00000409408.1	-	6	2472	c.764delG	c.(763-765)gafs	p.G255fs	FAM131B_ENST00000443739.2_Frame_Shift_Del_p.G283fs|FAM131B_ENST00000409578.1_Frame_Shift_Del_p.G271fs|FAM131B_ENST00000409346.1_Frame_Shift_Del_p.G255fs|FAM131B_ENST00000409222.3_Frame_Shift_Del_p.G255fs			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	255										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					GTCAGTGTCTCCCCCCAGCAA	0.607													36	139	---	---	---	---					
CNTNAP2	26047	broad.mit.edu	37	7	146536957	146536958	+	Frame_Shift_Ins	INS	-	-	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:146536957_146536958insT	ENST00000361727.3	+	3	879_880	c.363_364insT	c.(361-366)gggaaafs	p.K122fs		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	122	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GCGACACAGGGAGAAACTGGAA	0.450										HNSCC(39;0.1)			13	36	---	---	---	---					
PNLIPRP2	5408	broad.mit.edu	37	10	118396277	118396278	+	RNA	INS	-	-	T	rs148140777	by1000genomes	TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr10:118396277_118396278insT	ENST00000537242.1	+	0	962				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GACAAATTATGGTTTTTTTTTT	0.421													5	1	---	---	---	---					
OR8H3	390152	broad.mit.edu	37	11	55890477	55890477	+	Frame_Shift_Del	DEL	C	C	-			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:55890477delC	ENST00000313472.3	+	1	629	c.629delC	c.(628-630)tcfs	p.S210fs		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CTGATGGTGTCCCTTATCACA	0.423													13	179	---	---	---	---					
SLC2A3	6515	broad.mit.edu	37	12	8075436	8075437	+	Frame_Shift_Ins	INS	-	-	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:8075436_8075437insT	ENST00000075120.7	-	9	1492_1493	c.1252_1253insA	c.(1252-1254)gctfs	p.A418fs		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	418					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		GGGGAAGAGCAATCCGACTAGG	0.530													33	97	---	---	---	---					
MYO1A	4640	broad.mit.edu	37	12	57422572	57422573	+	Frame_Shift_Ins	INS	-	-	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:57422572_57422573insT	ENST00000442789.2	-	29	3385_3386	c.3098_3099insA	c.(3097-3099)aggfs	p.R1033fs	MYO1A_ENST00000544473.1_Frame_Shift_Ins_p.R871fs|MYO1A_ENST00000300119.3_Frame_Shift_Ins_p.R1033fs|TAC3_ENST00000415231.1_5'UTR	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	1033					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.?(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						AATGACTCCCCTTTTTTTTGTA	0.559													7	146	---	---	---	---					
RP11-597A11.1	0	broad.mit.edu	37	14	20138225	20138225	+	RNA	DEL	G	G	-			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:20138225delG	ENST00000548261.1	+	0	391																											CAGAAATTATGCAAGAAGTGA	0.532													14	123	---	---	---	---					
SLC23A2	9962	broad.mit.edu	37	20	4850569	4850569	+	Frame_Shift_Del	DEL	G	G	-	rs138961929		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr20:4850569delG	ENST00000379333.1	-	12	1625	c.1233delC	c.(1231-1233)ccfs	p.P411fs	SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000424750.2_Frame_Shift_Del_p.P297fs|SLC23A2_ENST00000338244.1_Frame_Shift_Del_p.P411fs	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	411					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity	p.I412fs*4(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTGCGTGGATGGGGGGGGGTG	0.527													7	146	---	---	---	---					
PAK7	57144	broad.mit.edu	37	20	9561435	9561435	+	Frame_Shift_Del	DEL	C	C	-	rs142065974	byFrequency	TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr20:9561435delC	ENST00000378429.3	-	5	893	c.347delG	c.(346-348)gtfs	p.G116fs	PAK7_ENST00000378423.1_Frame_Shift_Del_p.G116fs|PAK7_ENST00000353224.5_Frame_Shift_Del_p.G116fs	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	116	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GTGGCCTGGACCGTGGCTGGA	0.542													40	207	---	---	---	---					
KIAA1755	85449	broad.mit.edu	37	20	36869444	36869447	+	Frame_Shift_Del	DEL	GTGG	GTGG	-			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr20:36869444_36869447delGTGG	ENST00000279024.4	-	3	1357_1360	c.1086_1089delCCAC	c.(1084-1089)acfs	p.TH362fs		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	362										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TTTCTGAGTTGTGGGTGGGTGCTT	0.544													49	384	---	---	---	---					
FAM83D	81610	broad.mit.edu	37	20	37580383	37580383	+	Frame_Shift_Del	DEL	G	G	-			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr20:37580383delG	ENST00000217429.4	+	4	1109	c.1068delG	c.(1066-1068)ctfs	p.L356fs		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	326					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				AGCTCACCCTGGGCAACCTGC	0.597													9	133	---	---	---	---					
KRTAP10-6	386674	broad.mit.edu	37	21	46011972	46011972	+	Frame_Shift_Del	DEL	C	C	-			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr21:46011972delC	ENST00000400368.1	-	1	414	c.394delG	c.(394-396)atfs	p.D132fs	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	132	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						CATGAAGAATCCCCACAGCAG	0.637													17	55	---	---	---	---					
KDM6A	7403	broad.mit.edu	37	X	44969432	44969432	+	Frame_Shift_Del	DEL	T	T	-			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:44969432delT	ENST00000377967.4	+	28	4155	c.4114delT	c.(4114-4116)ttfs	p.F1372fs	KDM6A_ENST00000536777.1_Frame_Shift_Del_p.F1327fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.F1293fs|KDM6A_ENST00000382899.4_Frame_Shift_Del_p.F1379fs|KDM6A_ENST00000479423.1_3'UTR	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1372					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						CTTGGAAAACTTTGTGGTGCT	0.378			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								28	117	---	---	---	---