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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
OR10G7	390265	broad.mit.edu	37	11	123909399	123909399	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:123909399G>A	uc001pzq.1	-	0	310	c.310C>T	c.(310-312)Cac>Tac	p.H104Y		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		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)		CCCAGGAAGTGGAAAAAATAG	0.537000														94			19		0	0	1	0	0
SEMA4C	54910	broad.mit.edu	37	2	97530037	97530037	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:97530037G>A	uc002sxg.4	-	7	1435	c.1204C>T	c.(1204-1206)Cat>Tat	p.H402Y	SEMA4C_uc002sxf.4_5'Flank|SEMA4C_uc002sxe.3_5'Flank|SEMA4C_uc002sxh.4_Missense_Mutation_p.H349Y	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C (SEMA4C), mRNA.	349	Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GCTTCCTCATGGTACTCCTTA	0.602000														85			55		0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178566982	178566982	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr5:178566982C>T	uc003mjw.3	-	10	1786	c.1684G>A	c.(1684-1686)Ggc>Agc	p.G562S		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	562	TSP type-1 1.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.D561D(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CCCCAGCTGCCGTCCCGTTTG	0.592000														186			87		0	0	1	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144075860	144075860	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:144075860C>T	uc003wel.3	+	13	4655	c.4537C>T	c.(4537-4539)Ccc>Tcc	p.P1513S	ARHGEF5_uc003wem.3_Missense_Mutation_p.P314S	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.	1513	SH3.				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CAAAGACTCCCCCCAGGTACA	0.567000														225			65		0	0	1	0	0
NT5C1B-RDH14	100526794	broad.mit.edu	37	2	18766052	18766052	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:18766052C>T	uc010exr.3	-	3	569	c.457G>A	c.(457-459)Gag>Aag	p.E153K	NT5C1B-RDH14_uc002rcy.3_Missense_Mutation_p.E211K|NT5C1B-RDH14_uc010yju.2_Missense_Mutation_p.E151K|NT5C1B-RDH14_uc002rcz.3_Missense_Mutation_p.E211K|NT5C1B-RDH14_uc010yjw.2_Missense_Mutation_p.E194K|NT5C1B-RDH14_uc010yjv.2_Missense_Mutation_p.E228K|NT5C1B-RDH14_uc010exs.3_Missense_Mutation_p.E213K|NT5C1B-RDH14_uc002rda.3_Missense_Mutation_p.E151K|U6_uc021vej.1_5'Flank|NT5C1B-RDH14_uc002rdb.1_Missense_Mutation_p.E3K	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN	Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.	211	Ser-rich.				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding										TCCGGATTCTCTTGCATTTTG	0.701000														24			16		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55333073	55333073	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:55333073G>A	uc002qhl.4	+	4	772	c.709G>A	c.(709-711)Gga>Aga	p.G237R	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Missense_Mutation_p.G237R|KIR3DL2_uc010esf.3_Missense_Mutation_p.G142R|KIR3DL2_uc021vbo.1_Missense_Mutation_p.G237R|KIR3DL2_uc002qhk.4_Missense_Mutation_p.G237R			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	237	Ig-like C2-type 3.				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		GGTTCAGGCAGGAGAGAGCGT	0.577000														64			42		0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10550725	10550725	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:10550725G>A	uc002gmq.2	-	8	842	c.754C>T	c.(754-756)Cat>Tat	p.H252Y		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	252	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GTTCCAAAATGGATTCGGATG	0.473000														56			37		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39002899	39002899	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:39002899C>T	uc002oit.3	+	62	9378	c.9248C>T	c.(9247-9249)tCa>tTa	p.S3083L	RYR1_uc002oiu.3_Missense_Mutation_p.S3083L|RYR1_uc002oiv.1_Missense_Mutation_p.S3L|RYR1_uc010xuf.1_Missense_Mutation_p.S3L	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3083					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GTGATGAAGTCAGGCCCTGAG	0.612000														62			45		0	0	1	0	0
PCDP1	200373	broad.mit.edu	37	2	120362774	120362774	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:120362774G>A	uc002tmb.3	+	11	1296	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	PCDP1_uc010yyq.2_Missense_Mutation_p.E192K	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.	348						cilium	calmodulin binding					Colorectal(110;0.196)					CCAGGGCACTGAAATTTCAAA	0.393000														34			20		0	0	1	0	0
FAM113B	91523	broad.mit.edu	37	12	47630095	47630095	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:47630095C>T	uc001rpq.3	+	1	1774	c.1249C>T	c.(1249-1251)Cga>Tga	p.R417*	FAM113B_uc001rpn.3_Nonsense_Mutation_p.R417*|FAM113B_uc021qxi.1_Nonsense_Mutation_p.R417*	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	417	Pro-rich.						hydrolase activity			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					ACAGCGGCCTCGACCTTCAAA	0.577000														23			13		0	0	1	0	0
CD6	923	broad.mit.edu	37	11	60785470	60785470	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:60785470C>A	uc001nqq.3	+	10	2047	c.1822C>A	c.(1822-1824)Cag>Aag	p.Q608K	CD6_uc001nqp.3_Missense_Mutation_p.Q608K|CD6_uc001nqs.3_Non-coding_Transcript|CD6_uc001nqr.3_Missense_Mutation_p.Q576K|CD6_uc001nqt.3_Missense_Mutation_p.Q567K	NM_006725	NP_006716	P30203	CD6_HUMAN	Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA.	608					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	p.T607T(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						GGCCGGCACCCAGCCAGCCTT	0.597000														21			20		1.33834e-09	1.34299e-09	1	1	0
DLGAP2	9228	broad.mit.edu	37	8	1497620	1497620	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr8:1497620C>T	uc003wpl.3	+	1	858	c.761C>T	c.(760-762)cCc>cTc	p.P254L	DLGAP2_uc003wpm.3_Missense_Mutation_p.P254L	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	333					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CTGCAGAGCCCCTTCGGGGAC	0.662000														33			71		0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57188459	57188459	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:57188459G>A	uc010kzo.3	-	4	934	c.663C>T	c.(661-663)tcC>tcT	p.S221S		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			AGCAGTTAAAGGATTTGCCAC	0.373000														12			14		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176993856	176993856	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:176993856C>T	uc001glc.3	-	5	1345	c.1133G>A	c.(1132-1134)cGa>cAa	p.R378Q	ASTN1_uc001glb.1_Missense_Mutation_p.R378Q|ASTN1_uc001gld.1_Missense_Mutation_p.R378Q|ASTN1_uc009wwx.1_Missense_Mutation_p.R378Q|ASTN1_uc001gle.4_Non-coding_Transcript	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	378					cell migration|neuron cell-cell adhesion	integral to membrane		p.R378Q(2)		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						CACAGGACTTCGGGGAGAACC	0.493000														22			12		0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4967581	4967581	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:4967581G>A	uc010qys.2	-	0	750	c.750C>T	c.(748-750)atC>atT	p.I250I		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V249V(1)		large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGTAGAAGATGATCACTGCAC	0.478000														152			21		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151855960	151855960	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:151855960G>A	uc003wla.3	-	43	11877	c.11658C>T	c.(11656-11658)acC>acT	p.T3886T	MLL3_uc003wkz.3_Silent_p.T2947T|MLL3_uc003wkx.3_5'Flank|MLL3_uc003wky.3_Silent_p.T1395T	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	3886					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GTTTCAAGTGGGTAAACGTGT	0.483000			N		medulloblastoma									277			111		0	0	1	0	0
PLAG1	5324	broad.mit.edu	37	8	57079135	57079135	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr8:57079135G>A	uc003xsq.4	-	2	1621	c.1170C>T	c.(1168-1170)tcC>tcT	p.S390S	PLAG1_uc003xsr.4_Silent_p.S390S|PLAG1_uc010lyi.3_Silent_p.S390S|PLAG1_uc010lyj.3_Silent_p.S308S|PLAG1_uc022aur.1_Silent_p.S308S	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA.	390	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			CATCATCTAGGGACCCAATCT	0.468000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma									89			37		0	0	1	0	0
ZNF75A	7627	broad.mit.edu	37	16	3363113	3363113	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr16:3363113C>T	uc002cut.4	+	3	564	c.38C>T	c.(37-39)cCc>cTc	p.P13L	ZNF75A_uc002cuv.4_Intron	NM_153028	NP_694573	Q96N20	ZN75A_HUMAN	Homo sapiens zinc finger protein 75a (ZNF75A), mRNA.	13	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						TTATTGGATCCCACTCAGAAG	0.423000														31			16		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54786654	54786654	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:54786654G>A	uc003dhf.3	+	11	1244	c.1196G>A	c.(1195-1197)cGa>cAa	p.R399Q	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.R305Q|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Missense_Mutation_p.R133Q	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	399	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.R399L(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CTCATTGGACGAGAGGCTGCG	0.512000														10			6		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196714955	196714955	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:196714955G>A	uc001gtj.4	+	20	3559	c.3319G>A	c.(3319-3321)Gga>Aga	p.G1107R	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	1107	Sushi 19.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AGATTCTACAGGAAAATGTGG	0.393000														75			41		0	0	1	0	0
OR51A2	401667	broad.mit.edu	37	11	4976194	4976194	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:4976194G>A	uc010qyt.2	-	0	750	c.750C>T	c.(748-750)atC>atT	p.I250I		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA.	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGTAGAAGATGATCACTGCAC	0.483000														70			15		0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101078454	101078454	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr8:101078454G>A	uc003yjb.1	-	6	860	c.665C>T	c.(664-666)tCg>tTg	p.S222L	RGS22_uc003yja.1_Missense_Mutation_p.S41L|RGS22_uc003yjc.1_Missense_Mutation_p.S210L|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_Missense_Mutation_p.S126L	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	222					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ACAGGGTAACGAAAAGGTTGA	0.368000														62			79		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43771275	43771275	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:43771275G>A	uc010skx.2	-	31	4888	c.4888C>T	c.(4888-4890)Cgg>Tgg	p.R1630W		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1630	TSP type-1 14.					proteinaceous extracellular matrix	zinc ion binding	p.R1630W(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACTATAGGCCGAAGTCGATGG	0.408000														15			22		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106829777	106829777	+	RNA	SNP	C	T	T	rs11546807		TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr14:106829777C>T	uc021ser.1	-	518		c.15126G>A			abParts_uc001ysx.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		GCTGGCGGATCCAGCTCCAGT	0.572000														71			42		0	0	1	0	0
SPATA17	128153	broad.mit.edu	37	1	217947835	217947835	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:217947835C>T	uc001hlh.1	+	6	705	c.679C>T	c.(679-681)Cct>Tct	p.P227S	SPATA17_uc009xdr.1_Non-coding_Transcript	NM_138796	NP_620151	Q96L03	SPT17_HUMAN	Homo sapiens spermatogenesis associated 17 (SPATA17), mRNA.	227						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		CCGTTCTTTTCCTCGGTCTGA	0.398000														42			15		0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72090797	72090797	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr14:72090797C>A	uc001xms.3	+	3	2023	c.1662C>A	c.(1660-1662)gaC>gaA	p.D554E	SIPA1L1_uc001xmt.3_Missense_Mutation_p.D554E|SIPA1L1_uc001xmu.3_Missense_Mutation_p.D554E|SIPA1L1_uc001xmv.3_Missense_Mutation_p.D554E|SIPA1L1_uc010ttm.2_Missense_Mutation_p.D29E	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	554					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TCCTGGAGGACGCCATTCCGT	0.572000														150			74		3.48418e-26	3.51464e-26	1	1	0
XPNPEP3	63929	broad.mit.edu	37	22	41277928	41277928	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr22:41277928C>T	uc003azh.3	+	2	437	c.336C>T	c.(334-336)ccC>ccT	p.P112P	XPNPEP3_uc011aox.2_Silent_p.P112P|XPNPEP3_uc003azi.3_Silent_p.P33P|XPNPEP3_uc011aoy.1_Non-coding_Transcript|XPNPEP3_uc010gyh.1_Non-coding_Transcript	NM_022098	NP_071381	Q9NQH7	XPP3_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 3, putative (XPNPEP3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	112					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						ACGATATTCCCTATACTTTCC	0.463000														67			34		0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78921039	78921039	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:78921039G>A	uc002jyt.1	+	26	3958	c.3153G>A	c.(3151-3153)tgG>tgA	p.W1051*	RPTOR_uc010wug.1_Nonsense_Mutation_p.W893*|RPTOR_uc002jyu.1_5'Flank	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA.	1051					TOR signaling cascade|cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|positive regulation of protein serine/threonine kinase activity	TORC1 complex|cytosol|lysosome	protein complex binding	p.W1051*(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TTTGGGACTGGGAGAAAGGGG	0.502000														40			10		0	0	1	0	0
ZNF594	84622	broad.mit.edu	37	17	5085353	5085353	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:5085353C>T	uc010cla.1	-	1	2355	c.2199G>A	c.(2197-2199)gaG>gaA	p.E733E	ZNF594_uc021tol.1_Silent_p.E733E	NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	Homo sapiens zinc finger protein 594 (ZNF594), mRNA.	733					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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						CTTCAAGTTTCTCTCCAGCAT	0.423000														95			67		0	0	1	0	0
TEX13A	56157	broad.mit.edu	37	X	104464956	104464957	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chrX:104464956_104464957GG>AA	uc004ema.3	-	1	237_238	c.125_126CC>TT	c.(124-126)tcc>tTT	p.S42F	IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.3_Missense_Mutation_p.S42F	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN	Homo sapiens testis expressed 13A (TEX13A), mRNA.	42						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CCTTCTCCCAGGATAAGGATAT	0.569000														9			24		0	0	1	0	0
RPH3A	22895	broad.mit.edu	37	12	113307767	113307767	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:113307767G>A	uc010syl.2	+	9	1081	c.719G>A	c.(718-720)cGa>cAa	p.R240Q	RPH3A_uc001ttz.3_Missense_Mutation_p.R240Q|RPH3A_uc001tty.3_Missense_Mutation_p.R236Q|RPH3A_uc009zwe.1_Missense_Mutation_p.R236Q|RPH3A_uc010sym.2_Missense_Mutation_p.R191Q|RPH3A_uc001tua.3_5'UTR	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA.	240	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TCCGAGGCACGAATGAGCTCA	0.607000														26			33		0	0	1	0	0
ZNF335	63925	broad.mit.edu	37	20	44599949	44599949	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr20:44599949G>A	uc002xqw.3	-	1	224	c.101C>T	c.(100-102)gCc>gTc	p.A34V	ZNF335_uc010zxk.2_Intron|ZNF335_uc002xqx.1_5'Flank|ZNF335_uc002xqy.3_5'Flank	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	Homo sapiens zinc finger protein 335 (ZNF335), mRNA.	34					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GGCGGACACGGCTTCTGAGGT	0.731000														25			4		0	0	1	0	0
PHYH	5264	broad.mit.edu	37	10	13337534	13337534	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr10:13337534G>A	uc001imf.3	-	2	295	c.207C>T	c.(205-207)atC>atT	p.I69I	PHYH_uc001ime.3_5'UTR	NM_006214	NP_001032626	O14832	PAHX_HUMAN	Homo sapiens phytanoyl-CoA 2-hydroxylase (PHYH), transcript variant 1, mRNA.	69					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	L-ascorbic acid binding|electron carrier activity|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	CAAGATTTTTGATTACTAGAA	0.318000														33			20		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126372726	126372726	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr4:126372726G>A	uc003ifj.4	+	8	10555	c.10555G>A	c.(10555-10557)Gaa>Aaa	p.E3519K	FAT4_uc011cgp.2_Missense_Mutation_p.E1817K|FAT4_uc003ifi.1_Missense_Mutation_p.E997K	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3519	Cadherin 34.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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						AGAAGTCATGGAAAACAAACG	0.493000														86			51		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179431408	179431408	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:179431408G>A	uc021vsy.1	-	274	71972	c.71747C>T	c.(71746-71748)cCt>cTt	p.P23916L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P17611L|TTN_uc021vta.1_Missense_Mutation_p.P17544L|TTN_uc021vtb.1_Missense_Mutation_p.P17419L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24843	Ig-like 120.						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)			TTTGAACACAGGATCACAGGC	0.448000														135			74		0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3886612	3886612	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:3886612A>G	uc003bpt.4	+	1	1048	c.287A>G	c.(286-288)aAc>aGc	p.N96S	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Missense_Mutation_p.N96S	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	96						integral to membrane		p.F95S(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CAGCTTTTCAACTTGACTGAA	0.438000														36			23		0	0	1	0	0
OR5K3	403277	broad.mit.edu	37	3	98109721	98109721	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:98109721C>T	uc011bgw.2	+	0	212	c.212C>T	c.(211-213)tCc>tTc	p.S71F		NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 3 (OR5K3), mRNA.	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						CTGATGGATTCCTGCTGTTCC	0.393000														135			80		0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48390684	48390684	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr10:48390684G>A	uc001jez.3	-	0	308	c.194C>T	c.(193-195)tCa>tTa	p.S65L		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	65	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			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)	CTGCGGGTCTGAGATGCTCAG	0.607000														20			27		0	0	1	0	0
NEFM	4741	broad.mit.edu	37	8	24772257	24772257	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr8:24772257C>T	uc003xed.4	+	0	984	c.951C>T	c.(949-951)atC>atT	p.I317I	NEFM_uc011lac.1_Silent_p.I317I|NEFM_uc010lue.3_5'Flank|AK308605_uc010luc.2_5'Flank	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	317	Coil 2B.|Rod.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AGGAAGAGATCGCCGAGTACC	0.637000														21			13		0	0	1	0	0
EFNB1	1947	broad.mit.edu	37	X	68060319	68060319	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chrX:68060319C>T	uc004dxe.2	+	4	1643	c.863C>T	c.(862-864)cCc>cTc	p.P288L	EFNB1_uc004dxd.4_Missense_Mutation_p.P288L	NM_004429	NP_004420	P98172	EFNB1_HUMAN	Homo sapiens ephrin-B1 (EFNB1), mRNA.	288					cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding	p.P288P(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						CTGGCCAGTCCCAAGGGGGGC	0.602000														3			9		0	0	1	0	0
EDC3	80153	broad.mit.edu	37	15	74964046	74964046	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr15:74964046G>A	uc002ayn.3	-	5	722	c.234C>T	c.(232-234)gaC>gaT	p.D78D	EDC3_uc002ayo.3_Silent_p.D78D|EDC3_uc002aym.3_Silent_p.D78D	NM_001142443	NP_079359	Q96F86	EDC3_HUMAN	Homo sapiens enhancer of mRNA decapping 3 homolog (S. cerevisiae) (EDC3), transcript variant 1, mRNA.	78	Required for P-body targeting and interaction with DCP1A (By similarity).				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	RNA binding|protein binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						TTTGATGAAGGTCTCCAAAAT	0.468000														80			33		0	0	1	0	0
FUT9	10690	broad.mit.edu	37	6	96652000	96652000	+	Silent	SNP	T	C	C			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr6:96652000T>C	uc003pop.4	+	2	1310	c.969T>C	c.(967-969)acT>acC	p.T323T	FUT9_uc021zcw.1_Silent_p.T323T	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA.	323					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		AGGATTTCACTGTAAATCTTC	0.363000														41			20		0	0	1	0	0
NR1D1	9572	broad.mit.edu	37	17	38251936	38251936	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:38251936G>A	uc002htz.2	-	4	1635	c.1009C>T	c.(1009-1011)Cca>Tca	p.P337S	NR1D1_uc010cwq.2_Non-coding_Transcript|NR1D1_uc010cwr.1_Intron	NM_021724	NP_068370	P20393	NR1D1_HUMAN	Homo sapiens nuclear receptor subfamily 1, group D, member 1 (NR1D1), mRNA.	337					cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					GGGGCAGGTGGGCAGCCCTGA	0.612000														59			38		0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158326606	158326606	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:158326606C>T	uc001fse.3	+	5	1380	c.1087C>T	c.(1087-1089)Cag>Tag	p.Q363*	CD1E_uc001fsh.3_Nonsense_Mutation_p.Q162*|CD1E_uc001fry.3_Nonsense_Mutation_p.Q296*|CD1E_uc001fsf.3_Nonsense_Mutation_p.Q351*|CD1E_uc001fsg.3_3'UTR|CD1E_uc009wsv.3_Nonsense_Mutation_p.Q264*|CD1E_uc001fsj.3_Nonsense_Mutation_p.Q206*|CD1E_uc001fsk.3_Nonsense_Mutation_p.Q273*|CD1E_uc001fsa.3_Nonsense_Mutation_p.Q119*|CD1E_uc001fsd.3_3'UTR|CD1E_uc001frz.3_Nonsense_Mutation_p.Q261*|CD1E_uc010pig.2_Nonsense_Mutation_p.Q107*|CD1E_uc001fsc.3_Nonsense_Mutation_p.Q174*|CD1E_uc021pbm.1_Non-coding_Transcript|CD1E_uc009wsw.3_Silent_p.I77I	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	363					antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen		p.Q363H(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TTCAAGACATCAGTTCTGCTT	0.438000														69			41		0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73718149	73718149	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:73718149C>T	uc002sje.1	+	9	9171	c.9060C>T	c.(9058-9060)tcC>tcT	p.S3020S	ALMS1_uc002sjf.1_Silent_p.S2978S|ALMS1_uc002sjg.3_Silent_p.S2408S|ALMS1_uc002sjh.1_Silent_p.S2408S	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	3020					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTGTGGTCTCCCAGTCAGCCC	0.383000														53			43		0	0	1	0	0
CCDC136	64753	broad.mit.edu	37	7	128447549	128447549	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:128447549C>T	uc003vnv.2	+	9	1971	c.1555C>T	c.(1555-1557)Ctc>Ttc	p.L519F	CCDC136_uc003vnu.2_Intron|CCDC136_uc003vnx.2_Missense_Mutation_p.L335F|CCDC136_uc010llq.2_5'UTR|CCDC136_uc003vny.2_Missense_Mutation_p.L129F	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	Homo sapiens coiled-coil domain containing 136 (CCDC136), transcript variant 1, mRNA.	519						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GCTGAAAGAGCTCAAGGCCTC	0.572000														5			4		0	0	1	0	0
PTH1R	5745	broad.mit.edu	37	3	46937273	46937274	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:46937273_46937274GG>AA	uc003cqm.3	+	4	430_431	c.227_228GG>AA	c.(226-228)ggg>gAA	p.G76E	PTH1R_uc021wxg.1_Missense_Mutation_p.G76E	NM_000316	NP_001171673	Q03431	PTH1R_HUMAN	Homo sapiens parathyroid hormone 1 receptor (PTH1R), transcript variant 1, mRNA.	76						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						TCCACATCAGGGAAGCCCAGGA	0.545000											OREG0015543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		37			20		0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81334773	81334773	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:81334773C>T	uc003uhl.3	-	16	2108	c.1943G>A	c.(1942-1944)gGg>gAg	p.G648E	HGF_uc003uhm.3_Missense_Mutation_p.G643E	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	648	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						AGTCACCTTCCCTCGATGATG	0.403000														66			16		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995253	140995253	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chrX:140995253C>T	uc004fbt.3	+	3	2387	c.2063C>T	c.(2062-2064)tCc>tTc	p.S688F	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.S347F	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	688							protein binding			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)					GGGGAGGATTCCCTGTCTCCT	0.572000										HNSCC(15;0.026)				18			55		0	0	1	0	0
RASSF9	9182	broad.mit.edu	37	12	86199464	86199464	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:86199464G>A	uc001taf.1	-	1	663	c.324C>T	c.(322-324)ccC>ccT	p.P108P		NM_005447	NP_005438	O75901	RASF9_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 (RASSF9), mRNA.	108	Ras-associating.				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATTGCATATTGGGCTGCTCAT	0.448000														73			41		0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34867078	34867078	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:34867078C>T	uc003teh.1	+	4	672	c.544C>T	c.(544-546)Ctg>Ttg	p.L182L	NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Silent_p.L182L|NPSR1_uc010kwt.1_Silent_p.L29L|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Silent_p.L116L|NPSR1_uc003tei.1_Silent_p.L182L|NPSR1_uc010kww.1_Silent_p.L171L|NPSR1_uc011kar.1_Silent_p.L116L|NPSR1-AS1_uc010kwy.3_Intron|NPSR1-AS1_uc003tek.4_Intron	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	182						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CATTCCCACCCTGATCATATT	0.532000														57			23		0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70926274	70926274	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr14:70926274G>A	uc021rvq.1	+	0	2058	c.2058G>A	c.(2056-2058)ctG>ctA	p.L686L	ADAM21_uc001xmd.3_Silent_p.L686L	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	686					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TTTTGCCGCTGATTGTGATTC	0.483000														22			17		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196799481	196799481	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:196799481C>T	uc002utj.4	-	20	3406	c.3305G>A	c.(3304-3306)gGa>gAa	p.G1102E		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1102	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTTTGCGATTCCTTCAAAACA	0.358000														29			34		0	0	1	0	0
DDX23	9416	broad.mit.edu	37	12	49231348	49231349	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:49231348_49231349GG>AA	uc001rsm.3	-	6	802_803	c.711_712CC>TT	c.(709-714)atccgg>atTTgg	p.R238W		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 (DDX23), mRNA.	238	Glu-rich.					U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	p.R238L(1)		NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TTCTCTTCCCGGATCTTCTGCC	0.515000														76			42		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37433984	37433984	+	Splice_Site	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr10:37433984G>A	uc021ppc.1	+	8	1386	c.1287_splice	c.e8+1	p.R429_splice	ANKRD30A_uc001iza.1_Splice_Site_p.R429_splice	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	485						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GTGATTCTCGGGTATTGTGTA	0.308000														38			16		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152285704	152285704	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:152285704C>T	uc001ezu.1	-	2	1694	c.1658G>A	c.(1657-1659)gGa>gAa	p.G553E	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	553	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			ATCAGACCTTCCCTGGGATGT	0.567000									Ichthyosis					335			335		0	0	1	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	810	810	+	RNA	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chrGL000237.1:810C>T	uc011mgu.1	-	1		c.408G>A								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		TCCAAGGATCCTACCACTTGG	0.587000														7			3		0	0	1	0	0
SLC4A11	83959	broad.mit.edu	37	20	3208913	3208913	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr20:3208913G>A	uc010zqe.2	-	18	2804	c.2679C>T	c.(2677-2679)atC>atT	p.I893I	SLC4A11_uc002wig.3_Silent_p.I866I|SLC4A11_uc002wih.3_Non-coding_Transcript|SLC4A11_uc010zqf.2_Silent_p.I850I	NM_001174090	NP_001167561	Q8NBS3	S4A11_HUMAN	Homo sapiens solute carrier family 4, sodium borate transporter, member 11 (SLC4A11), transcript variant 1, mRNA.	866					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						ACCGGATGGGGATCATGGCGA	0.647000														33			16		0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22133574	22133574	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr14:22133574C>T	uc010tmd.2	+	0	278	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		AAGACCATTTCCTTTGACAAC	0.438000														39			190		0	0	1	0	0
OXR1	55074	broad.mit.edu	37	8	107718676	107718676	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr8:107718676G>A	uc011lht.2	+	7	1029	c.930G>A	c.(928-930)gaG>gaA	p.E310E	OXR1_uc022azp.1_Silent_p.E309E|OXR1_uc003ymf.3_Silent_p.E309E|OXR1_uc011lhu.2_Silent_p.E302E|OXR1_uc010mcg.3_Intron|OXR1_uc010mch.3_Silent_p.E7E|OXR1_uc003ymg.1_Silent_p.E242E|OXR1_uc003ymi.1_Silent_p.E221E	NM_001198532	NP_001185461	Q8N573	OXR1_HUMAN	Homo sapiens oxidation resistance 1 (OXR1), transcript variant 3, mRNA.	310					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			GTAACACTGAGGAAATAGACT	0.393000														145			53		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21997802	21997802	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:21997802G>A	uc001rfh.3	-	24	3164	c.3144C>T	c.(3142-3144)ttC>ttT	p.F1048F	ABCC9_uc001rfi.1_Silent_p.F1048F	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1048	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CAAGGCAAAGGAAAATGCCTG	0.408000														37			10		0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45688382	45688382	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:45688382G>A	uc003tne.4	+	4	1152	c.1134G>A	c.(1132-1134)atG>atA	p.M378I	ADCY1_uc003tnd.3_Missense_Mutation_p.M153I	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	378					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|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GACTCGACATGATTGATACCA	0.572000														44			24		0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450200	105450200	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chrX:105450200G>A	uc022cca.1	+	0	775	c.775G>A	c.(775-777)Gag>Aag	p.E259K	MUM1L1_uc004emg.2_Missense_Mutation_p.E259K|MUM1L1_uc004emf.2_Missense_Mutation_p.E259K	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	259										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						AGAAGAGAGCGAGGATACCTG	0.453000														4			12		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179590565	179590565	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:179590565G>A	uc021vsy.1	-	66	16977	c.16752C>T	c.(16750-16752)atC>atT	p.I5584I	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.I2245I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6511	Ig-like 36.						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)			GGTATTCACCGATGTCTGAAG	0.388000														38			24		0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70048794	70048794	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:70048794C>T	uc001svg.3	-	9	2127	c.1900G>A	c.(1900-1902)Gct>Act	p.A634T	BEST3_uc001svd.2_Intron|BEST3_uc001svf.3_Missense_Mutation_p.A421T|BEST3_uc010stm.2_Missense_Mutation_p.A528T	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	634						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CGAGAGCCAGCCACAATGTTG	0.458000														42			24		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28270496	28270496	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr10:28270496C>T	uc009xky.3	-	6	933	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	ARMC4_uc010qds.2_5'UTR|ARMC4_uc010qdt.2_5'UTR|ARMC4_uc001itz.3_Missense_Mutation_p.E279K|ARMC4_uc010qdu.1_5'UTR	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	279							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ACGTCCCCTTCATCATCTGTT	0.308000														36			31		0	0	1	0	0
FSHB	2488	broad.mit.edu	37	11	30255155	30255155	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:30255155G>A	uc001msl.3	+	2	267	c.198G>A	c.(196-198)caG>caA	p.Q66Q	FSHB_uc001msm.3_Silent_p.Q66Q|FSHB_uc001msn.3_Silent_p.Q66Q	NM_000510	NP_001018090	P01225	FSHB_HUMAN	Homo sapiens follicle stimulating hormone, beta polypeptide (FSHB), transcript variant 1, mRNA.	66					cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12					Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)	CCAAAATCCAGAAAACATGTA	0.463000														58			20		0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54385788	54385788	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:54385788G>A	uc002qcq.1	+	0	322	c.40G>A	c.(40-42)Gga>Aga	p.G14R	PRKCG_uc010eqz.1_Missense_Mutation_p.G14R|PRKCG_uc010yef.1_Missense_Mutation_p.G14R|PRKCG_uc010yeg.1_Missense_Mutation_p.G14R|PRKCG_uc010yeh.1_5'Flank	NM_002739	NP_002730	P05129	KPCG_HUMAN	Homo sapiens protein kinase C, gamma (PRKCG), mRNA.	14					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		TTCAGAGGGGGGACCCCGGCC	0.627000														114			75		0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158390303	158390303	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:158390303C>T	uc010pii.2	-	0	354	c.354G>A	c.(352-354)atG>atA	p.M118I		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA.	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GATCATAACCCATGACTGCCA	0.517000														96			37		0	0	1	0	0
C10orf113	387638	broad.mit.edu	37	10	21414910	21414910	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr10:21414910G>A	uc001iqm.3	-	1	361	c.310C>T	c.(310-312)Cag>Tag	p.Q104*	NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron|C10orf113_uc021pnv.1_3'UTR	NM_001010896	NP_001010896	Q5VZT2	CJ113_HUMAN	Homo sapiens chromosome 10 open reading frame 113 (C10orf113), transcript variant 1, mRNA.	104										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						GGAGCTGCCTGGATGGGCGGC	0.567000														44			29		0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28409304	28409304	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr10:28409304G>A	uc001iua.1	-	11	1110	c.706C>T	c.(706-708)Ctc>Ttc	p.L236F	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.L236F|MPP7_uc009xla.2_Missense_Mutation_p.L236F|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	236	SH3.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TAGTCAAAGAGGGCTTTGATA	0.343000														32			19		0	0	1	0	0
OR6C68	403284	broad.mit.edu	37	12	55886278	55886278	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:55886278G>A	uc010spo.2	+	0	132	c.132G>A	c.(130-132)ggG>ggA	p.G44G		NM_001005519	NP_001005519	A6NDL8	O6C68_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 68 (OR6C68), mRNA.	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						GTGTAACAGGGAAACTGACCA	0.393000														54			56		0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204125	9204125	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:9204125G>A	uc010xkj.2	+	0	205	c.205G>A	c.(205-207)Gtt>Att	p.V69I		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA.	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V69I(4)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCTGTCCCTGGTTGATTTCTG	0.557000														95			5		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51263120	51263120	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:51263120G>A	uc011bds.2	+	14	1316	c.1293G>A	c.(1291-1293)ggG>ggA	p.G431G		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	431	DHR-1.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity	p.K431N(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGGAGAAGGGGGATTTCGAGA	0.463000														88			42		0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118250483	118250483	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chrX:118250483C>T	uc004era.4	-	3	626	c.626G>A	c.(625-627)cGg>cAg	p.R209Q		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	209								p.P208S(2)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTGATTTTCCCGAACGGGCTG	0.507000														2			7		0	0	1	0	0
DMGDH	29958	broad.mit.edu	37	5	78328649	78328649	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr5:78328649C>T	uc003kfs.3	-	8	1384	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K	DMGDH_uc011cte.1_Missense_Mutation_p.E310K|DMGDH_uc011ctf.1_Missense_Mutation_p.E259K|DMGDH_uc011ctg.1_Missense_Mutation_p.E80K	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA.	460					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		AACCGTTCTTCTTTAGGATAA	0.438000														78			36		0	0	1	0	0
FMO4	2329	broad.mit.edu	37	1	171289012	171289012	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:171289012C>T	uc001gho.3	+	2	265	c.48C>T	c.(46-48)tcC>tcT	p.S16S		NM_002022	NP_002013	P31512	FMO4_HUMAN	Homo sapiens flavin containing monooxygenase 4 (FMO4), mRNA.	16					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GTGGCCTCTCCTCCATCAAAT	0.458000														80			90		0	0	1	0	0
TCN2	6948	broad.mit.edu	37	22	31011715	31011715	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr22:31011715C>T	uc003aip.2	+	5	1130	c.881C>T	c.(880-882)cCc>cTc	p.P294L	TCN2_uc003air.2_Missense_Mutation_p.P267L	NM_000355	NP_000346	P20062	TCO2_HUMAN	Homo sapiens transcobalamin II (TCN2), transcript variant 1, mRNA.	294					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAGCTGCTGCCCGTTCTGAAC	0.527000														71			39		0	0	1	0	0
RBM12	10137	broad.mit.edu	37	20	34241272	34241272	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr20:34241272G>A	uc021wcr.1	-	0	1973	c.1973C>T	c.(1972-1974)cCc>cTc	p.P658L	CPNE1_uc010zvj.2_Intron|CPNE1_uc002xde.3_Intron|CPNE1_uc002xdf.3_Intron|CPNE1_uc002xdi.3_Intron|CPNE1_uc002xdj.3_Intron|CPNE1_uc002xdl.3_Intron|CPNE1_uc002xdm.3_Intron|CPNE1_uc010gfk.2_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdq.3_Missense_Mutation_p.P658L|RBM12_uc002xds.3_Missense_Mutation_p.P658L|RBM12_uc002xdr.3_Missense_Mutation_p.P658L|RBM12_uc021wcq.1_Missense_Mutation_p.P658L	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	Homo sapiens RNA binding motif protein 12 (RBM12), transcript variant 2, mRNA.	658	Gly-rich.|Pro-rich.					nucleus	RNA binding|nucleotide binding|protein binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TCCCACACCGGGCAGTCCCGC	0.577000														34			26		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28540041	28540041	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr6:28540041G>A	uc003nlo.3	-	3	4243	c.3625C>T	c.(3625-3627)Cca>Tca	p.P1209S		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	1209					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						gaaagaaatggattttggatc	0.303000														11			8		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57769397	57769397	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr20:57769397G>A	uc002yan.3	+	0	3323	c.3323G>A	c.(3322-3324)gGg>gAg	p.G1108E		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1108						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GAGCCTCCTGGGAATGCCCCA	0.652000														43			17		0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189904220	189904220	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:189904220C>T	uc002uqk.3	-	50	3978	c.3703G>A	c.(3703-3705)Gat>Aat	p.D1235N	COL5A2_uc010frx.3_Missense_Mutation_p.D811N	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	1235					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCCATGATATCCCCAAGAGCA	0.527000														17			9		0	0	1	0	0
RCOR3	55758	broad.mit.edu	37	1	211486923	211486923	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:211486923C>T	uc010psw.2	+	11	1670	c.1475C>T	c.(1474-1476)cCa>cTa	p.P492L	RCOR3_uc001hif.3_Silent_p.S411S|RCOR3_uc001hig.3_Missense_Mutation_p.P434L|RCOR3_uc009xcz.3_Non-coding_Transcript	NM_001136223	NP_060724	Q9P2K3	RCOR3_HUMAN	Homo sapiens REST corepressor 3 (RCOR3), transcript variant 1, mRNA.	434					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		CAGCCTCCTCCACTCCAGCAG	0.587000														71			53		0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530480	140530480	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr5:140530480G>A	uc003lir.3	+	0	642	c.642G>A	c.(640-642)ctG>ctA	p.L214L		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	214	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.L214Q(2)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGATCGCGCTGGATGGCGGGT	0.602000														68			35		0	0	1	0	0
MC2R	4158	broad.mit.edu	37	18	13885332	13885332	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr18:13885332G>A	uc002ksp.1	-	1	363	c.186C>T	c.(184-186)ttC>ttT	p.F62F	MC2R_uc021uhs.1_Silent_p.F62F	NM_000529	NP_000520	Q01718	ACTHR_HUMAN	Homo sapiens melanocortin 2 receptor (adrenocorticotropic hormone) (MC2R), mRNA.	62					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	AGCTACAGATGAAAAAGTACA	0.408000														44			22		0	0	1	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291724	141291724	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chrX:141291724G>A	uc022cfj.1	-	0	50	c.50C>T	c.(49-51)cCg>cTg	p.P17L	MAGEC2_uc004fbu.2_Missense_Mutation_p.P17L	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	17						cytoplasm|nucleus		p.P17Q(2)		NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					AACTGAGGTCGGGGAGTCGTT	0.512000										HNSCC(46;0.14)				21			91		0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	657961	657961	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr4:657961A>T	uc003gap.3	+	16	2133	c.2080A>T	c.(2080-2082)Agc>Tgc	p.S694C	PDE6B_uc003gao.4_Missense_Mutation_p.S694C|PDE6B_uc011buy.2_Missense_Mutation_p.S415C|PDE6B_uc011buz.2_Missense_Mutation_p.S126C	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	694					GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GGACAAGAAGAGCTGGGTGGA	0.607000														51			21		0	0	1	0	0
FUT9	10690	broad.mit.edu	37	6	96651051	96651051	+	Missense_Mutation	SNP	G	A	A	rs146406553		TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr6:96651051G>A	uc003pop.4	+	2	361	c.20G>A	c.(19-21)gGa>gAa	p.G7E	FUT9_uc021zcw.1_Missense_Mutation_p.G7E	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA.	7					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	p.G7E(4)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		ACATCCAAAGGAATTCTTCGC	0.388000														63			39		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38639317	38639317	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:38639317G>A	uc021wvo.1	-	12	2217	c.2165C>T	c.(2164-2166)aCc>aTc	p.T722I	SCN5A_uc021wvk.1_Missense_Mutation_p.T722I|SCN5A_uc021wvl.1_Missense_Mutation_p.T722I|SCN5A_uc021wvm.1_Missense_Mutation_p.T722I|SCN5A_uc021wvn.1_Missense_Mutation_p.T722I|SCN5A_uc021wvp.1_Missense_Mutation_p.T722I|SCN5A_uc021wvq.1_Missense_Mutation_p.T722I|SCN5A_uc021wvr.1_Missense_Mutation_p.T722I|SCN5A_uc021wvs.1_Missense_Mutation_p.T722I|SCN5A_uc021wvt.1_Missense_Mutation_p.T722I|SCN5A_uc021wvu.1_Missense_Mutation_p.T722I|SCN5A_uc021wvv.1_Missense_Mutation_p.T722I|SCN5A_uc021wvj.1_Missense_Mutation_p.T588I|SCN5A_uc021wvi.1_Missense_Mutation_p.T588I|SCN5A_uc021wvw.1_Missense_Mutation_p.T333I	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	722					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			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)	CATAGTGATGGTGAGGTCAGT	0.542000														49			35		0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66902209	66902209	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:66902209C>T	uc002jhq.3	-	18	2714	c.2374G>A	c.(2374-2376)Gga>Aga	p.G792R	ABCA8_uc002jhp.3_Missense_Mutation_p.G752R|ABCA8_uc010wqq.2_Missense_Mutation_p.G792R|ABCA8_uc010wqr.2_Missense_Mutation_p.G731R|ABCA8_uc002jhr.3_Missense_Mutation_p.G792R	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	752						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GTAGATTTTCCTTCTAGCTTC	0.313000														38			38		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189868499	189868499	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:189868499C>T	uc002uqj.1	+	37	2764	c.2647C>T	c.(2647-2649)Cct>Tct	p.P883S		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	883	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TCTTCCTGGTCCTCCTGGTAG	0.368000														49			13		0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49190571	49190571	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:49190571G>A	uc002rww.3	-	9	1499	c.1389C>T	c.(1387-1389)atC>atT	p.I463I	FSHR_uc010fbn.3_Silent_p.I437I|FSHR_uc002rwx.3_Silent_p.I401I	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	463					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TTTCCAAGGTGATAGCTGTCA	0.527000									Gonadal Dysgenesis, 46 XX					23			23		0	0	1	0	0
SPARCL1	8404	broad.mit.edu	37	4	88415045	88415045	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr4:88415045C>T	uc010ikm.3	-	4	1479	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	SPARCL1_uc011cdc.2_Missense_Mutation_p.E178K|SPARCL1_uc003hqs.4_Missense_Mutation_p.E303K|SPARCL1_uc011cdd.2_Missense_Mutation_p.E178K	NM_001128310	NP_004675	Q14515	SPRL1_HUMAN	Homo sapiens SPARC-like 1 (hevin) (SPARCL1), transcript variant 1, mRNA.	303					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding	p.L302I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		CTGATAGCTTCTAGGCCAGTT	0.433000														159			96		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237870469	237870469	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:237870469C>T	uc001hyl.1	+	67	9921	c.9801C>T	c.(9799-9801)gcC>gcT	p.A3267A	RYR2_uc010pxz.1_Silent_p.A222A	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3267					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCTGCACAGCCCTGAACTCAG	0.483000														19			17		0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158325692	158325692	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:158325692G>A	uc001fse.3	+	3	994	c.701G>A	c.(700-702)gGa>gAa	p.G234E	CD1E_uc010pid.2_Missense_Mutation_p.G232E|CD1E_uc010pie.2_Missense_Mutation_p.G135E|CD1E_uc001fsh.3_Missense_Mutation_p.G45E|CD1E_uc001fry.3_Missense_Mutation_p.G234E|CD1E_uc001fsf.3_Missense_Mutation_p.G234E|CD1E_uc001fsg.3_Missense_Mutation_p.G45E|CD1E_uc009wsv.3_Missense_Mutation_p.G135E|CD1E_uc001fsj.3_Missense_Mutation_p.G144E|CD1E_uc001fsk.3_Missense_Mutation_p.G144E|CD1E_uc001fsa.3_Missense_Mutation_p.G45E|CD1E_uc001fsd.3_Missense_Mutation_p.G234E|CD1E_uc001frz.3_Missense_Mutation_p.G144E|CD1E_uc010pig.2_Missense_Mutation_p.G45E|CD1E_uc001fsc.3_Missense_Mutation_p.G45E|CD1E_uc021pbm.1_Non-coding_Transcript|CD1E_uc009wsw.3_5'UTR	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	234	Ig-like.				antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CATGTCTCAGGATTCTACCCA	0.592000														72			30		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064856	9064856	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:9064856C>T	uc002mkp.3	-	2	22794	c.22590G>A	c.(22588-22590)agG>agA	p.R7530R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7532	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T7529T(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						ACTGAATTTTCCTAGTGTTAG	0.473000														51			23		0	0	1	0	0
NFATC3	4775	broad.mit.edu	37	16	68156766	68156766	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr16:68156766C>T	uc002evo.2	+	1	1296	c.980C>T	c.(979-981)cCa>cTa	p.P327L	NFATC3_uc010vkl.2_5'UTR|NFATC3_uc010vkm.2_5'UTR|NFATC3_uc010vkn.2_5'UTR|NFATC3_uc010vko.2_5'UTR|NFATC3_uc010vkp.2_5'UTR|NFATC3_uc010vkq.2_5'UTR|NFATC3_uc002evl.3_Intron|NFATC3_uc002evk.3_Missense_Mutation_p.P327L|NFATC3_uc002evm.2_Missense_Mutation_p.P327L|NFATC3_uc002evn.2_Missense_Mutation_p.P327L|NFATC3_uc010vkr.2_5'UTR|NFATC3_uc010vks.2_5'UTR|NFATC3_uc010vkt.2_5'UTR|NFATC3_uc010vku.2_5'UTR|NFATC3_uc010vkv.2_5'UTR|NFATC3_uc010vkw.2_5'UTR|NFATC3_uc010vkx.2_5'UTR|NFATC3_uc010vky.2_5'UTR|NFATC3_uc010vkz.2_5'UTR|NFATC3_uc010vla.2_5'UTR|NFATC3_uc010vlb.2_5'UTR|NFATC3_uc010vlc.2_5'UTR	NM_173165	NP_775188	Q12968	NFAC3_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 (NFATC3), transcript variant 1, mRNA.	327					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		GCAGTTTTTCCATTTCAGTAC	0.483000														22			83		0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53074022	53074022	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr8:53074022C>T	uc003xqz.2	-	8	1663	c.1507G>A	c.(1507-1509)Gat>Aat	p.D503N	ST18_uc011ldq.1_Missense_Mutation_p.D150N|ST18_uc011ldr.1_Missense_Mutation_p.D468N|ST18_uc011lds.1_Missense_Mutation_p.D408N|ST18_uc003xra.2_Missense_Mutation_p.D503N|ST18_uc003xrb.2_Missense_Mutation_p.D503N	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	503						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)				CTGGCATAATCAAATGGTACT	0.423000														82			46		0	0	1	0	0
FMR1	2332	broad.mit.edu	37	X	147019005	147019005	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chrX:147019005C>T	uc010nst.3	+	10	1240	c.1011C>T	c.(1009-1011)tcC>tcT	p.S337S	FMR1_uc004fcj.3_Silent_p.S335S|FMR1_uc022cgc.1_Silent_p.S337S|FMR1_uc022cgd.1_Non-coding_Transcript|FMR1_uc004fck.4_Silent_p.S337S|FMR1_uc022cge.1_Silent_p.S337S|FMR1_uc022cgf.1_Silent_p.S337S|FMR1_uc022cgg.1_Non-coding_Transcript|FMR1_uc004fcl.4_Silent_p.S198S|FMR1_uc011mxa.2_Silent_p.S5S	NM_002024	NP_002015	Q06787	FMR1_HUMAN	Homo sapiens fragile X mental retardation 1 (FMR1), transcript variant ISO1, mRNA.	337					mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					CACCAAATTCCCTTCCTTCCA	0.328000									Fragile X syndrome					11			34		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233122099	233122099	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:233122099G>A	uc001hvl.2	-	32	6214	c.5979C>T	c.(5977-5979)tcC>tcT	p.S1993S	PCNXL2_uc001hvk.1_Silent_p.S645S|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1993	Ser-rich.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GAGAGTGCAGGGACGTGGCCG	0.687000														4			6		0	0	1	0	0
THNSL1	79896	broad.mit.edu	37	10	25312542	25312542	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr10:25312542C>T	uc001isi.4	+	2	719	c.390C>T	c.(388-390)tcC>tcT	p.S130S	ENKUR_uc001ish.1_Intron|THNSL1_uc021pol.1_Silent_p.S130S	NM_024838	NP_079114	Q8IYQ7	THNS1_HUMAN	Homo sapiens threonine synthase-like 1 (S. cerevisiae) (THNSL1), mRNA.	130					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	GTGTGATTTCCCTTACTGGGT	0.383000														49			19		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7015735	7015736	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr18:7015735_7015736CC>TT	uc002knm.3	-	21	3205_3206	c.3111_3112GG>AA	c.(3109-3114)gcggag>gcAAag	p.E1038K	LAMA1_uc010wzj.2_Missense_Mutation_p.E514K	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1038	Laminin EGF-like 11.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.E1038K(2)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACCCCACCTCCGCATCGTAGC	0.525000														77			39		0	0	1	0	0
ACAP1	9744	broad.mit.edu	37	17	7245758	7245758	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:7245758C>G	uc002ggd.2	+	4	515	c.309C>G	c.(307-309)caC>caG	p.H103Q		NM_014716	NP_055531	Q15027	ACAP1_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (ACAP1), mRNA.	103	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						CCACCCAACACACACTGCAGC	0.592000														44			26		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24921531	24921531	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr15:24921531G>A	uc001ywo.3	+	0	991	c.517G>A	c.(517-519)Gat>Aat	p.D173N		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	173					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CGAAGGGGAGGATGACGAGAA	0.622000														27			13		0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16281062	16281062	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr16:16281062C>T	uc002den.4	-	13	1823	c.1786G>A	c.(1786-1788)Gtg>Atg	p.V596M	ABCC6_uc010bvo.3_Non-coding_Transcript|ABCC6_uc010uzz.1_Missense_Mutation_p.V608M	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	596					response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		TCAAAGGACACCCGGGCCTAG	0.552000											OREG0023640	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		21			3		0	0	1	0	0
KRT16	3868	broad.mit.edu	37	17	39768428	39768428	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:39768428G>A	uc002hxg.4	-	0	652	c.513C>T	c.(511-513)atC>atT	p.I171I	JUP_uc010wfs.2_Intron|KRT16_uc021txm.1_Silent_p.I171I	NM_005557	NP_005548	P08779	K1C16_HUMAN	Homo sapiens keratin 16 (KRT16), mRNA.	171	Coil 1B.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				TCAGGTCCTCGATGGTCTTGA	0.542000														108			53		0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	67748490	67748491	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr10:67748490_67748491CC>TT	uc009xpn.1	-	15	2347_2348	c.2224_2225GG>AA	c.(2224-2226)gga>AAa	p.G742K	CTNNA3_uc001jmw.2_Missense_Mutation_p.G742K	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	742					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CATCCTTGATCCTGATTCTGAT	0.391000														11			26		0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48734092	48734092	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:48734092C>T	uc002isl.3	+	2	332	c.252C>T	c.(250-252)tcC>tcT	p.S84S	ABCC3_uc002isk.4_Silent_p.S84S	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	84					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GGTGCGTCTCCTGGGCGGACC	0.607000														170			48		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3081372	3081372	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr8:3081372G>A	uc022aqr.1	-	27	4753	c.4363C>T	c.(4363-4365)Ctg>Ttg	p.L1455L	CSMD1_uc011kwj.2_Silent_p.L848L|CSMD1_uc003wqe.3_Silent_p.L612L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1456	CUB 9.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGGCCCGTCAGATTCCCTCCA	0.502000														6			21		0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55501987	55501987	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:55501987G>A	uc021vbq.1	+	9	2766	c.2655G>A	c.(2653-2655)gtG>gtA	p.V885V	NLRP2_uc010yfp.2_Silent_p.V862V|NLRP2_uc002qij.3_Silent_p.V885V|NLRP2_uc010esp.3_Silent_p.V863V|NLRP2_uc010esn.3_Silent_p.V861V|NLRP2_uc010eso.3_Silent_p.V882V	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	885					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		ATACAGGGGTGAAGTTTCTGT	0.547000														55			38		0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26851355	26851355	+	Silent	SNP	G	A	A	rs145385726	by1000genomes	TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr10:26851355G>A	uc001iss.3	+	13	1791	c.1470G>A	c.(1468-1470)tcG>tcA	p.S490S		NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	490					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						CTGAAACATCGAAGGTAAAAC	0.458000														94			69		0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139407552	139407552	+	Silent	SNP	C	T	T	rs143360959	by1000genomes	TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr9:139407552C>T	uc004chz.3	-	14	2388	c.2388G>A	c.(2386-2388)gcG>gcA	p.A796A	NOTCH1_uc004cia.1_Silent_p.A26A	NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	796	EGF-like 21; calcium-binding (Potential).				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ATGGGTTGGACGCACACTCGT	0.622000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)				36			18		0	0	1	0	0
KRTAP10-5	386680	broad.mit.edu	37	21	46000140	46000140	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr21:46000140C>T	uc002zfl.1	-	0	342	c.316G>A	c.(316-318)Gat>Aat	p.D106N	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198694	NP_941967	P60370	KR105_HUMAN	Homo sapiens keratin associated protein 10-5 (KRTAP10-5), mRNA.	106	22 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						GAAGAGGAATCCTTAGAgcag	0.647000														45			67		0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21462918	21462918	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:21462918C>T	uc003cce.3	-	7	1384	c.976G>A	c.(976-978)Gaa>Aaa	p.E326K		NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	326						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TTTGAAGGTTCTTTTGAAAAT	0.418000														15			5		0	0	1	0	0
TCRBV5S2	0	broad.mit.edu	37	7	142131675	142131675	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:142131675G>A	uc010lnz.1	-	1	124	c.80C>T	c.(79-81)cCc>cTc	p.P27L	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRBV5S2_uc022ang.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		CAGGTGTGTGGGACTTTGGGT	0.557000														100			21		0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36333048	36333048	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:36333048G>A	uc002oby.3	-	18	2797	c.2641C>T	c.(2641-2643)Cct>Tct	p.P881S	NPHS1_uc010eem.1_5'Flank	NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	881	Ig-like C2-type 8.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGATCCAGAGGGACCCCGTTT	0.622000														7			6		0	0	1	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52941118	52941118	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:52941118G>A	uc001cty.2	-	12	2366	c.2113C>T	c.(2113-2115)Cgg>Tgg	p.R705W	ZCCHC11_uc001ctx.2_Missense_Mutation_p.R705W|ZCCHC11_uc009vze.1_Missense_Mutation_p.R705W|ZCCHC11_uc009vzf.1_Missense_Mutation_p.R464W|ZCCHC11_uc001cub.3_Missense_Mutation_p.R705W	NM_001009881	NP_001009881	Q5TAX3	TUT4_HUMAN	Homo sapiens zinc finger, CCHC domain containing 11 (ZCCHC11), transcript variant 1, mRNA.	705					RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|stem cell maintenance	cytoplasm|nucleolus	RNA uridylyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GCAAAATACCGATAAGCTGCC	0.418000														15			39		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13871727	13871727	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr5:13871727C>T	uc003jfd.2	-	22	3586	c.3544G>A	c.(3544-3546)Gaa>Aaa	p.E1182K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1182	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCATTAATTTCCTGCTCTAGG	0.373000									Kartagener syndrome					53			20		0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18333019	18333019	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:18333019G>A	uc010xqc.2	-	1	837	c.357C>T	c.(355-357)tcC>tcT	p.S119S	PDE4C_uc002nik.4_Silent_p.S119S|PDE4C_uc002nil.4_Silent_p.S119S|PDE4C_uc002nig.4_5'Flank|PDE4C_uc002nih.4_5'Flank|PDE4C_uc010ebk.3_Silent_p.S13S|PDE4C_uc002nii.4_Silent_p.S87S|PDE4C_uc002nif.4_5'UTR|PDE4C_uc010ebl.3_5'UTR|PDE4C_uc010ebm.1_5'Flank|PDE4C_uc002nim.1_Silent_p.S119S	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	119					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GGTACAGGAAGGACTCGCGCC	0.647000														35			18		0	0	1	0	0
PRPF3	9129	broad.mit.edu	37	1	150298211	150298211	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:150298211C>T	uc001eum.4	+	2	310	c.148C>T	c.(148-150)Cat>Tat	p.H50Y	PRPF3_uc009wlo.3_Missense_Mutation_p.H50Y|PRPF3_uc009wlp.2_Non-coding_Transcript|PRPF3_uc010pca.2_Missense_Mutation_p.H9Y|PRPF3_uc010pcb.2_Missense_Mutation_p.H50Y	NM_004698	NP_004689	O43395	PRPF3_HUMAN	Homo sapiens PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae) (PRPF3), mRNA.	50	PWI.				nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		CCTGTCAGATCATCTGAAACC	0.453000														139			99		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					45			53		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31294133	31294133	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr5:31294133G>A	uc003jhe.2	+	2	653	c.293G>A	c.(292-294)gGa>gAa	p.G98E	CDH6_uc003jhd.2_Missense_Mutation_p.G98E	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	98	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			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						GATGGAGCAGGAGATCTCTTC	0.388000														83			29		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6679478	6679478	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:6679478C>T	uc002mfm.3	-	36	4548	c.4486G>A	c.(4486-4488)Gaa>Aaa	p.E1496K		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1496					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TCCTCCTTTTCCGGATGGTAG	0.577000														72			60		0	0	1	0	0
TMEM246	84302	broad.mit.edu	37	9	104239063	104239063	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr9:104239063G>A	uc004bbm.3	-	1	634	c.312C>T	c.(310-312)atC>atT	p.I104I	AK094413_uc004bbl.1_5'Flank|TMEM246_uc022blf.1_Silent_p.I104I	NM_032342	NP_115718	Q9BRR3	CI125_HUMAN	Homo sapiens chromosome 9 open reading frame 125 (C9orf125), mRNA.	104						integral to membrane											TGATGATGGTGATCACCAGCC	0.612000														47			36		0	0	1	0	0
PDE6A	5145	broad.mit.edu	37	5	149262997	149262997	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr5:149262997G>A	uc003lrg.4	-	16	2250	c.2130C>T	c.(2128-2130)atC>atT	p.I710I	PDE6A_uc021yfs.1_Silent_p.I629I	NM_000440	NP_000431	P16499	PDE6A_HUMAN	Homo sapiens phosphodiesterase 6A, cGMP-specific, rod, alpha (PDE6A), mRNA.	710					GMP metabolic process|cytosolic calcium ion homeostasis|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CTCACATAACGATTTCCTTCC	0.488000														13			9		0	0	1	0	0
TPTEP1	387590	broad.mit.edu	37	22	17119563	17119563	+	RNA	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr22:17119563C>T	uc002zls.1	+	1		c.400C>T			TPTEP1_uc002zlr.3_Non-coding_Transcript|TPTEP1_uc002zlt.3_Non-coding_Transcript					Homo sapiens transmembrane phosphatase with tensin homology pseudogene 1 (TPTEP1), non-coding RNA.																		TTCGGAGTATCGTTCTATTTC	0.353000														30			31		0	0	1	0	0
MRPL11	65003	broad.mit.edu	37	11	66204871	66204871	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:66204871G>A	uc001ohz.4	-	2	348	c.263C>T	c.(262-264)tCc>tTc	p.S88F	MRPL11_uc001ohy.4_Missense_Mutation_p.S88F|MRPL11_uc001oia.4_Missense_Mutation_p.S62F	NM_016050	NP_057134	Q9Y3B7	RM11_HUMAN	Homo sapiens mitochondrial ribosomal protein L11 (MRPL11), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	88					translation		structural constituent of ribosome			endometrium(3)|lung(2)|ovary(1)|prostate(1)	7						CAGGAAGTAGGAAACAGTGGG	0.502000														6			22		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144944486	144944486	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr8:144944486G>A	uc003zaa.1	-	0	2949	c.2936C>T	c.(2935-2937)cCa>cTa	p.P979L		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	979						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GAGGCTCTCTGGGCTGTGAGG	0.682000														10			10		0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68413599	68413599	+	RNA	SNP	C	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr9:68413599C>A	uc004aex.3	+	0		c.154C>A								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		GTGCCTTTTGCTGAAACTCTG	0.602000														9			3		0.00909568	0.00911147	1	1	0
BAI3	577	broad.mit.edu	37	6	69944955	69944955	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr6:69944955C>T	uc010kak.3	+	17	2915	c.2639C>T	c.(2638-2640)aCc>aTc	p.T880I	BAI3_uc003pev.4_Missense_Mutation_p.T880I|BAI3_uc011dxx.2_Missense_Mutation_p.T86I	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	880					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CCTTCAGTTACCCTAATAGTA	0.353000														95			53		0	0	1	0	0
OR2T12	127064	broad.mit.edu	37	1	248458015	248458015	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:248458015C>T	uc010pzj.2	-	0	866	c.866G>A	c.(865-867)aGt>aAt	p.S289N		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA.	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GTTCCTCACACTGTAGATGAG	0.478000														134			53		0	0	1	0	0
CCDC28A	25901	broad.mit.edu	37	6	139094905	139094905	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr6:139094905C>T	uc003qie.3	+	0	249	c.94C>T	c.(94-96)Cgt>Tgt	p.R32C	LOC100507462_uc003qid.2_5'Flank	NM_015439	NP_056254	Q8IWP9	CC28A_HUMAN	Homo sapiens coiled-coil domain containing 28A (CCDC28A), mRNA.	32										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		ACGTCACTTCCGTAAACAAAC	0.637000														156			95		0	0	1	0	0
KIAA1614	57710	broad.mit.edu	37	1	180904337	180904337	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:180904337C>T	uc001gok.2	+	4	1359	c.1292C>T	c.(1291-1293)tCc>tTc	p.S431F	KIAA1614_uc001gol.1_Missense_Mutation_p.S52F|KIAA1614_uc001gom.1_Intron	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	Homo sapiens KIAA1614 (KIAA1614), mRNA.	431										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						AGCGATTCCTCCAGCGGAGAG	0.677000														15			7		0	0	1	0	0
IL4I1	259307	broad.mit.edu	37	19	50398439	50398439	+	Splice_Site	SNP	T	C	C			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:50398439T>C	uc002pqv.2	-	7	1109	c.280_splice	c.e7-1	p.V94_splice	IL4I1_uc002pqt.1_Splice_Site_p.V85_splice|IL4I1_uc021uxy.1_Splice_Site_p.V107_splice|IL4I1_uc002pqu.2_Splice_Site_p.V107_splice|IL4I1_uc010eno.2_Splice_Site_p.V93_splice	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN	Homo sapiens interleukin 4 induced 1 (IL4I1), transcript variant 1, mRNA.	85						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		GATGGTGACCTGAGGGAGTCC	0.657000														22			15		0	0	1	0	0
FAM222A	84915	broad.mit.edu	37	12	110206311	110206311	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:110206311C>T	uc001tpd.2	+	2	1139	c.577C>T	c.(577-579)Cct>Tct	p.P193S	FAM222A-AS1_uc010sxs.2_Intron|FAM222A-AS1_uc001tpe.3_Intron	NM_032829	NP_116218	Q5U5X8	CL034_HUMAN	Homo sapiens chromosome 12 open reading frame 34 (C12orf34), mRNA.	193	Pro-rich.																GCCCCTGCCACCTTCCAACCT	0.736000														55			36		0	0	1	0	0
PSKH2	85481	broad.mit.edu	37	8	87076611	87076611	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr8:87076611G>A	uc011lfy.2	-	1	435	c.435C>T	c.(433-435)ctC>ctT	p.L145L		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	Homo sapiens protein serine kinase H2 (PSKH2), mRNA.	145	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			GTCGATCAAAGAGCTCCCCTC	0.517000														64			39		0	0	1	0	0
ZNF629	23361	broad.mit.edu	37	16	30794743	30794743	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr16:30794743G>A	uc002dzs.1	-	2	1114	c.906C>T	c.(904-906)aaC>aaT	p.N302N		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	Homo sapiens zinc finger protein 629 (ZNF629), mRNA.	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.N302K(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GGAGGTTGTGGTTCTGGCCGA	0.632000														77			55		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140711333	140711333	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr5:140711333C>T	uc003lji.2	+	0	1082	c.1082C>T	c.(1081-1083)cCt>cTt	p.P361L	PCDHGC5_uc011dan.2_Missense_Mutation_p.P361L	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	364	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAACTTTCCTCCTGGGACC	0.423000														32			16		0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248436940	248436940	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:248436940G>A	uc010pzi.2	-	0	177	c.177C>T	c.(175-177)ttC>ttT	p.F59F		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			GGCTCAGGAGGAAGTACATGG	0.532000														112			40		0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156136139	156136139	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr4:156136139C>T	uc003ioq.3	+	1	1537	c.1048C>T	c.(1048-1050)Cac>Tac	p.H350Y	NPY2R_uc003ior.3_Missense_Mutation_p.H350Y|NPY2R_uc021xtm.1_Missense_Mutation_p.H350Y	NM_000910	NP_000901	P49146	NPY2R_HUMAN	Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA.	350					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				GGATGCCATTCACTCTGAGGT	0.507000														49			37		0	0	1	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21422666	21422666	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:21422666C>T	uc001rer.3	-	13	2080	c.1829G>A	c.(1828-1830)gGa>gAa	p.G610E	SLCO1A2_uc010siq.2_Missense_Mutation_p.G478E|SLCO1A2_uc001res.3_Missense_Mutation_p.G610E|SLCO1A2_uc010sio.2_Missense_Mutation_p.G478E|SLCO1A2_uc010sip.2_Missense_Mutation_p.G478E	NM_021094	NP_602307	P46721	SO1A2_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA.	610					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						AAAGCTTGATCCTCTTAGTGC	0.348000														26			22		0	0	1	0	0
OR9G4	283189	broad.mit.edu	37	11	56511234	56511234	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:56511234C>T	uc010rjo.2	-	0	54	c.54G>A	c.(52-54)gtG>gtA	p.V18V		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TGCAATTTCCCACTTCCATGT	0.418000														16			33		0	0	1	0	0
C8orf80	389643	broad.mit.edu	37	8	27925074	27925074	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr8:27925074C>T	uc003xgm.4	-	5	811	c.668G>A	c.(667-669)aGg>aAg	p.R223K		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	Homo sapiens chromosome 8 open reading frame 80 (C8orf80), mRNA.	223						nucleus	GTP binding|GTPase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|skin(1)|stomach(1)	35		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)		GGGGATCTTCCTTTTGGGCTT	0.488000														6			9		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13470428	13470428	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:13470428G>A	uc002mwy.3	-	5	1206	c.970C>T	c.(970-972)Ctc>Ttc	p.L324F	CACNA1A_uc010xnd.2_Missense_Mutation_p.L324F|CACNA1A_uc021ups.1_Missense_Mutation_p.L324F|CACNA1A_uc010xne.2_Missense_Mutation_p.L324F|CACNA1A_uc010dze.2_Missense_Mutation_p.L324F|CACNA1A_uc021upt.1_Missense_Mutation_p.L324F	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	324					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			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)	ACATTGTAGAGGAGATCAGTC	0.537000														9			10		0	0	1	0	0
LRRC8C	84230	broad.mit.edu	37	1	90179797	90179797	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:90179797C>T	uc001dnl.4	+	2	1910	c.1668C>T	c.(1666-1668)atC>atT	p.I556I		NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member C (LRRC8C), mRNA.	556						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TTTCCAAAATCCCTCAGGCAG	0.428000														23			29		0	0	1	0	0
E2F8	79733	broad.mit.edu	37	11	19251164	19251164	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:19251164G>A	uc001mpm.3	-	9	2252	c.1730C>T	c.(1729-1731)aCc>aTc	p.T577I	E2F8_uc009yhv.3_Intron|E2F8_uc001mpn.4_Missense_Mutation_p.T577I	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	Homo sapiens E2F transcription factor 8 (E2F8), transcript variant 1, mRNA.	577					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCAGGCCTGGTAGAGGCACT	0.567000														72			93		0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45192184	45192184	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr20:45192184G>A	uc002xsf.2	-	11	1541	c.1501C>T	c.(1501-1503)Cgc>Tgc	p.R501C	SLC13A3_uc010ghn.2_Missense_Mutation_p.R470C|SLC13A3_uc010zxx.2_Missense_Mutation_p.R403C|SLC13A3_uc010zxw.2_Missense_Mutation_p.R451C|SLC13A3_uc002xsg.2_Missense_Mutation_p.R454C|SLC13A3_uc010gho.2_Missense_Mutation_p.R419C|SLC13A3_uc002xse.2_5'UTR|SLC13A3_uc010ghm.2_Missense_Mutation_p.R88C|SLC13A3_uc010zxv.2_Missense_Mutation_p.R86C	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA.	501						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	ACTCTCAGGCGGATGGCCTGG	0.602000														23			23		0	0	1	0	0
GDF2	2658	broad.mit.edu	37	10	48414282	48414282	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr10:48414282C>T	uc001jfa.1	-	1	746	c.586G>A	c.(586-588)Gac>Aac	p.D196N		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	196					BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						TCCTGAATGTCCTGGGACACC	0.537000														14			23		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170025118	170025118	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:170025118G>A	uc002ues.3	-	60	11779	c.11566C>T	c.(11566-11568)Ccg>Tcg	p.P3856S		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3856	LDL-receptor class A 34.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CAATATGGCGGGATACAAACA	0.458000														23			18		0	0	1	0	0
SNX9	51429	broad.mit.edu	37	6	158294154	158294154	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr6:158294154G>A	uc003qqv.1	+	2	293	c.120G>A	c.(118-120)ctG>ctA	p.L40L		NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN	Homo sapiens sorting nexin 9 (SNX9), mRNA.	40	SH3.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		GAGGATGGCTGGAAGGAAGAA	0.403000														18			9		0	0	1	0	0
GPRC5C	55890	broad.mit.edu	37	17	72436247	72436247	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:72436247C>T	uc002jkp.3	+	1	978	c.467C>T	c.(466-468)cCc>cTc	p.P156L	GPRC5C_uc002jkq.3_Intron|GPRC5C_uc002jkr.3_Missense_Mutation_p.P123L|GPRC5C_uc002jkt.3_Missense_Mutation_p.P111L|GPRC5C_uc002jku.3_5'Flank	NM_022036	NP_071319	Q9NQ84	GPC5C_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member C (GPRC5C), transcript variant 1, mRNA.	111						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						GTGGTGAAGCCCGACTTCTCC	0.592000														66			115		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247592893	247592893	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:247592893G>A	uc001icr.3	+	5	2301	c.2163G>A	c.(2161-2163)gtG>gtA	p.V721V	NLRP3_uc001ics.3_Silent_p.V721V|NLRP3_uc001icu.3_Silent_p.V721V|NLRP3_uc001icw.3_Intron|NLRP3_uc001icv.3_Intron|NLRP3_uc010pyw.2_Silent_p.V719V	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	721					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			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)			CTAGATTGGTGAACAGCCACC	0.507000														91			71		0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	10995381	10995381	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr16:10995381G>A	uc002daj.4	+	5	583	c.450G>A	c.(448-450)gaG>gaA	p.E150E	CIITA_uc002dai.4_Silent_p.E149E|CIITA_uc002dak.4_Silent_p.E149E|CIITA_uc002dag.2_Silent_p.E149E|CIITA_uc002dah.2_Silent_p.E150E|CIITA_uc010bup.1_Silent_p.E149E	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	149					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CCTTCCCAGAGGAGCTTCCGG	0.597000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """									19			3		0	0	1	0	0
CARS2	79587	broad.mit.edu	37	13	111329419	111329419	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr13:111329419G>A	uc001vrd.2	-	6	727	c.687C>T	c.(685-687)ttC>ttT	p.F229F	CARS2_uc010tjm.1_Non-coding_Transcript	NM_024537	NP_078813	Q9HA77	SYCM_HUMAN	Homo sapiens cysteinyl-tRNA synthetase 2, mitochondrial (putative) (CARS2), nuclear gene encoding mitochondrial protein, mRNA.	229					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	TCCACAGGGCGAAGTCACTGG	0.612000														45			25		0	0	1	0	0
CYP26B1	56603	broad.mit.edu	37	2	72362024	72362024	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:72362024G>A	uc002sih.1	-	3	727	c.727C>T	c.(727-729)Ctg>Ttg	p.L243L	CYP26B1_uc010yra.1_Silent_p.L226L|CYP26B1_uc010yrb.1_Silent_p.L168L	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN	Homo sapiens cytochrome P450, family 26, subfamily B, polypeptide 1 (CYP26B1), mRNA.	243					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CCCTTCTGCAGGATCTGCCGA	0.617000														31			30		0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210574780	210574780	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:210574780C>T	uc002vde.1	+	11	5123	c.4875C>T	c.(4873-4875)acC>acT	p.T1625T	MAP2_uc002vdd.1_Silent_p.T326T|MAP2_uc002vdf.1_Silent_p.T269T|MAP2_uc002vdg.1_Silent_p.T269T|MAP2_uc002vdh.1_Silent_p.T326T|MAP2_uc002vdi.1_Silent_p.T1621T	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	1625					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			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)	ATCCCAGGACCCCTCACACAC	0.577000														53			26		0	0	1	0	0
C4orf17	84103	broad.mit.edu	37	4	100434269	100434269	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr4:100434269C>T	uc003huw.3	+	1	393	c.31C>T	c.(31-33)Cag>Tag	p.Q11*	C4orf17_uc003hux.3_Non-coding_Transcript	NM_032149	NP_115525	Q53FE4	CD017_HUMAN	Homo sapiens chromosome 4 open reading frame 17 (C4orf17), mRNA.	11										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		ATCTGCTCTTCAGATCGAGGG	0.463000														42			34		0	0	1	0	0
OMG	4974	broad.mit.edu	37	17	29622726	29622726	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:29622726G>T	uc002hgj.3	-	1	837	c.624C>A	c.(622-624)gaC>gaA	p.D208E	NF1_uc002hgg.3_Intron|NF1_uc002hgh.3_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.3_Intron|OMG_uc021tuj.1_Missense_Mutation_p.D208E	NM_002544	NP_002535	P23515	OMGP_HUMAN	Homo sapiens oligodendrocyte myelin glycoprotein (OMG), mRNA.	208					cell adhesion|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|plasma membrane		p.0?(8)|p.?(3)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1)	13		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;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121)		CAAAAGATTGGTCTGGAATGA	0.353000														125			70		5.41795e-27	5.47488e-27	1	1	0
SPAG17	200162	broad.mit.edu	37	1	118582005	118582005	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:118582005C>T	uc001ehk.2	-	22	3297	c.3229G>A	c.(3229-3231)Gac>Aac	p.D1077N		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1077						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCCTTAGGGTCATTTAAATGA	0.383000														10			22		0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39913718	39913718	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:39913718G>A	uc002hxq.2	-	11	2272	c.1995C>T	c.(1993-1995)tcC>tcT	p.S665S	JUP_uc010wfs.2_Intron|JUP_uc002hxr.2_Silent_p.S665S|JUP_uc002hxs.2_Silent_p.S665S	NM_021991	NP_068831	P14923	PLAK_HUMAN	Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA.	665					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of Wnt receptor signaling pathway involved in heart development|negative regulation of heart induction by canonical Wnt receptor signaling pathway|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	Axin-APC-beta-catenin-GSK3B complex|Z disc|actin cytoskeleton|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|zonula adherens	RPTP-like protein binding|alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TGAGCTCCACGGACACGCGCT	0.582000														83			47		0	0	1	0	0
GXYLT1	283464	broad.mit.edu	37	12	42512862	42512862	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:42512862G>A	uc001rms.4	-	2	651	c.426C>T	c.(424-426)atC>atT	p.I142I	GXYLT1_uc001rmt.4_Silent_p.I111I	NM_173601	NP_775872	Q4G148	GXLT1_HUMAN	Homo sapiens glucoside xylosyltransferase 1 (GXYLT1), transcript variant 1, mRNA.	142					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						GAAGAGGTTTGATGCTGAAAA	0.373000														61			5		0	0	1	0	0
C20orf85	128602	broad.mit.edu	37	20	56728676	56728676	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr20:56728676G>A	uc002xyv.3	+	1	183	c.145G>A	c.(145-147)Gag>Aag	p.E49K		NM_178456	NP_848551	Q9H1P6	CT085_HUMAN	Homo sapiens chromosome 20 open reading frame 85 (C20orf85), mRNA.	49										kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			AACCCCTTTTGAGGAGGTAAA	0.398000														35			20		0	0	1	0	0
CFHR2	3080	broad.mit.edu	37	1	196918654	196918654	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:196918654C>T	uc001gtq.1	+	1	205	c.128C>T	c.(127-129)tCc>tTc	p.S43F	CFHR2_uc001gtr.1_Intron	NM_005666	NP_005657	P36980	FHR2_HUMAN	Homo sapiens complement factor H-related 2 (CFHR2), mRNA.	43	Sushi 1.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						AAGCCATTTTCCCAAGTTCCT	0.348000														20			27		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144942134	144942134	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr8:144942134C>T	uc003zaa.1	-	0	5301	c.5288G>A	c.(5287-5289)gGa>gAa	p.G1763E		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1763						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTAGTTTTCTCCTTTCTTTAT	0.537000														61			44		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70071300	70071300	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr6:70071300G>A	uc010kak.3	+	27	4411	c.4135G>A	c.(4135-4137)Gaa>Aaa	p.E1379K	BAI3_uc003pev.4_Missense_Mutation_p.E1379K|BAI3_uc011dxx.2_Missense_Mutation_p.E585K	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1379					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.F1378Y(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTTGCCCTTTGAACCTCGCAC	0.418000														63			56		0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138613105	138613105	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr6:138613105C>T	uc003qhu.3	+	18	3454	c.3283C>T	c.(3283-3285)Cgg>Tgg	p.R1095W		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	1095					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CAGCCGGGGTCGGGCCTCCGA	0.751000														7			5		0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57417853	57417853	+	Splice_Site	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:57417853C>T	uc001cyp.3	-	5	601	c.534_splice	c.e5-1	p.G178_splice	C8B_uc010oon.2_Splice_Site_p.G116_splice|C8B_uc010ooo.2_Splice_Site_p.G126_splice	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	178	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ACAAATTTATCCTGTGAGGAA	0.448000														34			88		0	0	1	0	0
MUC20	200958	broad.mit.edu	37	3	195451910	195451910	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:195451910G>A	uc010hzo.3	+	1	562	c.436G>A	c.(436-438)Gat>Aat	p.D146N	MUC20_uc010hzp.3_Missense_Mutation_p.D111N|MUC20_uc011bte.1_5'Flank	NM_152673	NP_689886	Q8N307	MUC20_HUMAN	Homo sapiens mucin 20, cell surface associated (MUC20), transcript variant L, mRNA.	327			Missing.		protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CCTTTGCACCGATGACAGCTC	0.557000														234			4		0	0	1	0	0
RFPL1	5988	broad.mit.edu	37	22	29837674	29837674	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr22:29837674C>T	uc003afn.3	+	1	726	c.517C>T	c.(517-519)Cct>Tct	p.P173S	RFPL1-AS1_uc003afm.2_Non-coding_Transcript	NM_021026	NP_066306	O75677	RFPL1_HUMAN	Homo sapiens ret finger protein-like 1 (RFPL1), mRNA.	173	B30.2/SPRY.						zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						CCTGGGCTCCCCTCGCTTTAC	0.567000														82			59		0	0	1	0	0
DSTYK	25778	broad.mit.edu	37	1	205138507	205138507	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:205138507G>A	uc001hbw.3	-	2	1172	c.1108C>T	c.(1108-1110)Ctt>Ttt	p.L370F	DSTYK_uc001hbx.3_Missense_Mutation_p.L370F|DSTYK_uc001hby.1_Intron	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	Homo sapiens dual serine/threonine and tyrosine protein kinase (DSTYK), transcript variant 1, mRNA.	370						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						AAGATGTCAAGGCAGTGGCAG	0.488000														66			24		0	0	1	0	0
WISP2	8839	broad.mit.edu	37	20	43355792	43355792	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr20:43355792G>A	uc002xmp.3	+	3	744	c.597G>A	c.(595-597)acG>acA	p.T199T	LOC79015_uc002xml.1_Intron|WISP2_uc002xmq.3_Missense_Mutation_p.R117Q	NM_003881	NP_003872	O76076	WISP2_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 2 (WISP2), mRNA.	199	TSP type-1.				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				AATGGAGCACGGCCTGGGGAC	0.652000														48			26		0	0	1	0	0
LCE1F	353137	broad.mit.edu	37	1	152749062	152749062	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:152749062G>A	uc010pdv.2	+	0	215	c.215G>A	c.(214-216)gGa>gAa	p.G72E		NM_178354	NP_848131	Q5T754	LCE1F_HUMAN	Homo sapiens late cornified envelope 1F (LCE1F), mRNA.	72	Poly-Gly.				keratinization					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)			AGCTCTGGGGGAGGCGGCTGT	0.692000														69			40		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11523033	11523033	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:11523033G>A	uc002gne.3	+	5	1353	c.1285G>A	c.(1285-1287)Gat>Aat	p.D429N		NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	429	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAAGGAATGGGATTTCCAGTC	0.512000														91			55		0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432855	104432855	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr9:104432855C>T	uc004bbp.2	-	2	2440	c.1839G>A	c.(1837-1839)tgG>tgA	p.W613*	GRIN3A_uc004bbq.1_Nonsense_Mutation_p.W613*	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	613					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding	p.H612N(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CTAGCCCAGTCCAGTGCCCAT	0.488000														47			19		0	0	1	0	0
STC2	8614	broad.mit.edu	37	5	172744943	172744943	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr5:172744943G>A	uc003mco.1	-	3	2126	c.816C>T	c.(814-816)gcC>gcT	p.A272A	STC2_uc003mcn.1_Silent_p.A187A	NM_003714	NP_003705	O76061	STC2_HUMAN	Homo sapiens stanniocalcin 2 (STC2), mRNA.	272					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CTCTGCCTCGGGCATGGGCGT	0.607000														58			40		0	0	1	0	0
ACSM4	341392	broad.mit.edu	37	12	7459301	7459301	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:7459301C>T	uc001qsx.1	+	1	374	c.374C>T	c.(373-375)cCt>cTt	p.P125L		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	125					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						CCCAGAATCCCTGAGTGGTGG	0.507000														7			11		0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88472452	88472452	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr15:88472452G>A	uc002bme.2	-	16	2409	c.2103C>T	c.(2101-2103)tcC>tcT	p.S701S	NTRK3_uc002bmh.2_Silent_p.S693S|NTRK3_uc002bmf.2_Silent_p.S701S|NTRK3_uc021sua.1_Silent_p.S693S|NTRK3_uc010upl.1_Silent_p.S603S|NTRK3_uc010bnh.1_Silent_p.S693S	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	701	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGACATCTCTGGACATGCCGA	0.527000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				76			47		0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891447	18891447	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:18891447G>A	uc001rdy.3	+	0	403	c.245G>A	c.(244-246)cGa>cAa	p.R82Q	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	82					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GGCGACTACCGATTTTTTGAC	0.418000														34			28		0	0	1	0	0
CHI3L1	1116	broad.mit.edu	37	1	203150401	203150401	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:203150401G>A	uc001gzi.2	-	6	771	c.600C>T	c.(598-600)ttC>ttT	p.F200F	CHI3L1_uc001gzk.1_5'UTR|CHI3L1_uc001gzj.2_Silent_p.F200F|CHI3L1_uc001gzl.3_5'Flank	NM_001276	NP_001267	P36222	CH3L1_HUMAN	Homo sapiens chitinase 3-like 1 (cartilage glycoprotein-39) (CHI3L1), mRNA.	200					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						TGATGCTAATGAAATCCAGGT	0.527000														57			24		0	0	1	0	0
C9orf135	138255	broad.mit.edu	37	9	72521022	72521022	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr9:72521022C>T	uc004ahl.3	+	5	725	c.660C>T	c.(658-660)ccC>ccT	p.P220P	C9orf135_uc011lrw.2_3'UTR|C9orf135_uc010moq.3_Silent_p.P112P|C9orf135_uc011lrx.2_Non-coding_Transcript|C9orf135_uc010mop.3_3'UTR	NM_001010940	NP_001010940	Q5VTT2	CI135_HUMAN	Homo sapiens chromosome 9 open reading frame 135 (C9orf135), mRNA.	220						integral to membrane				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						AACTCTATCCCTTGACTAGTG	0.348000														45			27		0	0	1	0	0
SLAMF8	56833	broad.mit.edu	37	1	159802876	159802876	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:159802876G>A	uc001fue.4	+	2	788	c.578G>A	c.(577-579)gGa>gAa	p.G193E		NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN	Homo sapiens SLAM family member 8 (SLAMF8), mRNA.	193	Ig-like C2-type.					integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					CTGGGACCAGGAGACAGAGAT	0.547000														66			28		0	0	1	0	0
REPS2	9185	broad.mit.edu	37	X	17152000	17152000	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chrX:17152000C>T	uc004cxv.1	+	14	1803	c.1632C>T	c.(1630-1632)tcC>tcT	p.S544S	REPS2_uc004cxw.1_Silent_p.S543S|REPS2_uc011miw.1_Silent_p.S342S	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 2 (REPS2), transcript variant 1, mRNA.	544	Interaction with RALBP1.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					GAGCCCCATCCCAGGCTGCAG	0.527000														23			56		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106725444	106725444	+	RNA	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr14:106725444G>A	uc021ser.1	-	927		c.22068C>T								Parts of antibodies, mostly variable regions.																		AGAGTCTCAGGGACCCCCCAG	0.587000														219			80		0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76720889	76720889	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr6:76720889C>T	uc003pik.1	-	7	990	c.860G>A	c.(859-861)gGa>gAa	p.G287E		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	287	SEA 1.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TTACCTAAATCCTAACACATG	0.308000														6			4		0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20389662	20389662	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr14:20389662G>A	uc010tkw.2	+	0	897	c.897G>A	c.(895-897)agG>agA	p.R299R		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGCCGTAAGGAAAATTGTGA	0.383000														160			27		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179453297	179453297	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:179453297G>A	uc021vsy.1	-	252	55676	c.55451C>T	c.(55450-55452)cCt>cTt	p.P18484L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P12179L|TTN_uc021vta.1_Missense_Mutation_p.P12112L|TTN_uc021vtb.1_Missense_Mutation_p.P11987L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19411	Ig-like 106.						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)			CGGTCTTGAAGGCAAGCTTGG	0.423000														115			61		0	0	1	0	0
OR52N5	390075	broad.mit.edu	37	11	5798997	5798997	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:5798997A>G	uc010qzn.2	-	0	901	c.868T>C	c.(868-870)Tat>Cat	p.Y290H	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 5 (OR52N5), mRNA.	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		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)		AGAAGAAGATAAAGATTAGCC	0.428000														54			25		0	0	1	0	0
C13orf35	400165	broad.mit.edu	37	13	113333874	113333874	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr13:113333874T>A	uc001vsh.1	+	1	939	c.181T>A	c.(181-183)Tgg>Agg	p.W61R		NM_207440	NP_997323	Q6ZP68	CM035_HUMAN	Homo sapiens chromosome 13 open reading frame 35 (C13orf35), mRNA.	61										breast(1)|lung(2)|ovary(1)|prostate(1)	5	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		all cancers(43;0.201)			GGCTGCGTCATGGGACCAGCC	0.637000														43			24		0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74044050	74044050	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:74044050G>A	uc002sjr.1	+	2	2821	c.2700G>A	c.(2698-2700)ggG>ggA	p.G900G		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	900										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						CCTCTTTGGGGAAAGTGCAGT	0.443000														20			5		0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	101053472	101053472	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr6:101053472G>A	uc003pqk.3	-	32	5478	c.5149C>T	c.(5149-5151)Ctt>Ttt	p.L1717F		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	1717	Helicase C-terminal 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GGTTCATAAAGAAATTTTTTA	0.338000														13			12		0	0	1	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22196469	22196469	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:22196469T>C	uc003svg.3	-	15	1449	c.1136A>G	c.(1135-1137)aAc>aGc	p.N379S	RAPGEF5_uc011jyl.1_Missense_Mutation_p.N60S	NM_012294	NP_036426	Q92565	RPGF5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 5 (RAPGEF5), mRNA.	229	Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						CTGGAGCCAGTTCTCCTTAAG	0.453000														66			22		0	0	1	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175873	143175873	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:143175873G>A	uc003wdc.1	+	0	908	c.908G>A	c.(907-909)gGc>gAc	p.G303D	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	303					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.G303C(1)		endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TTGGCAAGGGGCTTCTGGGTG	0.522000														16			19		0	0	1	0	0
PADI2	11240	broad.mit.edu	37	1	17395640	17395640	+	Missense_Mutation	SNP	C	T	T	rs148845742	byFrequency	TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:17395640C>T	uc001baf.3	-	15	1979	c.1897G>A	c.(1897-1899)Gac>Aac	p.D633N	PADI2_uc010ocm.2_Missense_Mutation_p.D517N	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	Homo sapiens peptidyl arginine deiminase, type II (PADI2), mRNA.	633					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	GAAATGTCGTCGATGAAGGTG	0.597000														34			55		0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72131162	72131162	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr13:72131162C>T	uc021rkj.1	-	5	1993	c.1570G>A	c.(1570-1572)Gaa>Aaa	p.E524K	DACH1_uc021rkk.1_Intron|DACH1_uc021rkl.1_Intron	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	574					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TTACCTTTTTCAATATGCATC	0.378000														52			31		0	0	1	0	0
LGALS3BP	3959	broad.mit.edu	37	17	76972087	76972087	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:76972087C>T	uc002jwh.3	-	2	383	c.204G>A	c.(202-204)gaG>gaA	p.E68E	LGALS3BP_uc002jwi.3_Intron	NM_005567	NP_005558	Q08380	LG3BP_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 3 binding protein (LGALS3BP), mRNA.	68	SRCR.				cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GGGTGGCGTTCTCGAAGCCCA	0.652000														40			10		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166903441	166903441	+	Missense_Mutation	SNP	C	T	T	rs121918768		TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:166903441C>T	uc002udo.4	-	10	1443	c.1216G>A	c.(1216-1218)Gtc>Atc	p.V406I	SCN1A_uc010fpk.3_Missense_Mutation_p.V406I|SCN1A_uc021vsb.1_Missense_Mutation_p.V406I	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	406			V -> F (in SMEI; dbSNP:rs121918768).			voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.V406V(1)		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)	AAGAAAATGACCAATACAAAA	0.398000														53			28		0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35468500	35468500	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:35468500C>T	uc002hnm.3	-	51	6611	c.6420G>A	c.(6418-6420)gtG>gtA	p.V2140V	ACACA_uc002hnk.3_Silent_p.V2062V|ACACA_uc002hnl.3_Silent_p.V2082V|ACACA_uc002hnn.3_Silent_p.V2140V|ACACA_uc002hno.3_Silent_p.V2177V|ACACA_uc010cuy.3_Silent_p.V785V|ACACA_uc010wdb.2_Silent_p.V178V|ACACA_uc010wdc.2_Silent_p.V266V	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	2140	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	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	AGACTGGGTCCACCCGACGCA	0.463000														60			38		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38891766	38891766	+	Splice_Site	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr6:38891766G>A	uc021yzh.1	+	73	10900	c.10791_splice	c.e73-1	p.R3597_splice	DNAH8_uc003ooe.2_Splice_Site_p.R3380_splice|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											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						TTTCTTCACAGACTTGTAGGT	0.423000														36			28		0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7982493	7982493	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:7982493G>A	uc001mfv.1	-	1	683	c.666C>T	c.(664-666)ctC>ctT	p.L222L		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	222	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACCAGAAAAGGAGCTGCTCCA	0.542000														51			19		0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19455503	19455503	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr16:19455503G>A	uc002dgc.4	+	3	1638	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	TMC5_uc010vaq.2_Missense_Mutation_p.E297K|TMC5_uc002dgb.4_Missense_Mutation_p.E297K|TMC5_uc010var.2_Missense_Mutation_p.E297K	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	297						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGAAGGCATTGAAATGGCATC	0.502000														46			23		0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32445948	32445948	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr22:32445948C>T	uc003amc.3	+	1	404	c.154C>T	c.(154-156)Cgt>Tgt	p.R52C		NM_000343	NP_000334	P13866	SC5A1_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 1 (SLC5A1), transcript variant 1, mRNA.	52					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	p.N51H(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						TTCCACCAATCGTGGGACTGT	0.468000														154			121		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6125994	6125994	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:6125994G>A	uc001qnn.1	-	28	5346	c.5096C>T	c.(5095-5097)tCc>tTc	p.S1699F	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1699	VWFA 3; main binding site for collagens type I and III.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GAAACTGGAGGAGCCATCCAG	0.527000														114			23		0	0	1	0	0
GCKR	2646	broad.mit.edu	37	2	27745405	27745405	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:27745405G>A	uc002rky.3	+	17	1717	c.1651G>A	c.(1651-1653)Gat>Aat	p.D551N	GCKR_uc010ezd.3_Missense_Mutation_p.D549N|GCKR_uc010ylu.2_Missense_Mutation_p.D361N	NM_001486	NP_001477	Q14397	GCKR_HUMAN	Homo sapiens glucokinase (hexokinase 4) regulator (GCKR), mRNA.	551					carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					ACTGTCAGATGATATTCGGGC	0.517000														75			47		0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96551840	96551840	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:96551840G>A	uc002suz.1	-	19	1677	c.200C>T	c.(199-201)tCg>tTg	p.S67L	ANKRD36C_uc002sva.1_Non-coding_Transcript|ANKRD36C_uc002svb.1_Missense_Mutation_p.S67L					SubName: Full=Uncharacterized protein;											breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GGCTATATTCGAAACAGAATC	0.313000														7			6		0	0	1	0	0
CDC45	8318	broad.mit.edu	37	22	19496196	19496196	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr22:19496196C>T	uc011aha.2	+	13	1373	c.1295C>T	c.(1294-1296)gCt>gTt	p.A432V	CDC45_uc011agz.1_Missense_Mutation_p.A395V|CDC45_uc002zpr.3_Missense_Mutation_p.A400V|CDC45_uc002zpt.3_Missense_Mutation_p.A354V	NM_001178010	NP_001171481	O75419	CDC45_HUMAN	Homo sapiens cell division cycle 45 homolog (S. cerevisiae) (CDC45), transcript variant 1, mRNA.	400					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						TTCATCCAGGCTCTGGACAGC	0.587000														26			17		0	0	1	0	0
TAT	6898	broad.mit.edu	37	16	71604239	71604240	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr16:71604239_71604240CC>TT	uc002fap.2	-	8	1072_1073	c.973_974GG>AA	c.(973-975)gga>AAa	p.G325K		NM_000353	NP_000344	P17735	ATTY_HUMAN	Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA.	325					2-oxoglutarate metabolic process|L-phenylalanine catabolic process|glutamate metabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	TTTCAGAGCTCCCTGGACAATG	0.510000														9			53		0	0	1	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149216496	149216496	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr5:149216496G>A	uc003lrc.3	+	7	2569	c.2478G>A	c.(2476-2478)ggG>ggA	p.G826G	PPARGC1B_uc003lrb.2_Silent_p.G826G|PPARGC1B_uc003lrd.3_Silent_p.G787G|PPARGC1B_uc021yfr.1_Silent_p.G762G|PPARGC1B_uc003lre.1_Silent_p.G805G|PPARGC1B_uc003lrf.3_Silent_p.G805G	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	826					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			aggaCTCAGGGGTCAGCCCCA	0.622000														79			38		0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79454436	79454436	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr14:79454436A>T	uc001xun.3	+	11	2586	c.2095A>T	c.(2095-2097)Acc>Tcc	p.T699S	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.T824S	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GGAGGGCTTCACCTGTGATTG	0.448000														67			28		0	0	1	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138758704	138758704	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:138758704G>A	uc003vun.3	-	6	2158	c.1770C>T	c.(1768-1770)tcC>tcT	p.S590S	ZC3HAV1_uc003vuo.3_Silent_p.S51S|ZC3HAV1_uc003vup.3_Silent_p.S590S	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1 (ZC3HAV1), transcript variant 1, mRNA.	590					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						AAGAAGGAGTGGAGAGGCGTC	0.418000														82			31		0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156590244	156590245	+	Missense_Mutation	DNP	GG	AA	AA	rs151185932		TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr5:156590244_156590245GG>AA	uc003lwn.3	-	1	1131_1132	c.1031_1032CC>TT	c.(1030-1032)gcc>gTT	p.A344V		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	344						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CACCCACCAAGGCCAAGCTAAT	0.569000														55			41		0	0	1	0	0
DEFB121	245934	broad.mit.edu	37	20	29992787	29992787	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr20:29992787G>A	uc002wvv.2	-	1	274	c.160C>T	c.(160-162)Ccc>Tcc	p.P54S	DEFB121_uc021wbq.1_Missense_Mutation_p.P42S	NM_001011878	NP_001011878	Q5J5C9	DB121_HUMAN	Homo sapiens defensin, beta 121 (DEFB121), transcript variant 1, mRNA.	54					defense response to bacterium	extracellular region				large_intestine(1)|lung(1)	2	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			ACATACTTGGGATCCACACAG	0.408000														60			68		0	0	1	0	0
PRMT8	56341	broad.mit.edu	37	12	3702286	3702286	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:3702286G>A	uc001qmf.3	+	9	1490	c.1123G>A	c.(1123-1125)Gac>Aac	p.D375N	PRMT8_uc009zed.3_Missense_Mutation_p.D366N|PRMT8_uc001qmg.3_Missense_Mutation_p.D189N|PRMT8_uc001qmh.3_Non-coding_Transcript	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	Homo sapiens protein arginine methyltransferase 8 (PRMT8), mRNA.	375					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			TTTCACAGTAGACTTGGATTT	0.522000														9			10		0	0	1	0	0
RHBG	57127	broad.mit.edu	37	1	156351931	156351931	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:156351931C>T	uc010pho.2	+	6	1089	c.1051C>T	c.(1051-1053)Ctg>Ttg	p.L351L	RHBG_uc010phm.1_Silent_p.S183S|RHBG_uc010phn.1_Non-coding_Transcript|RHBG_uc001fos.3_Silent_p.L282L|RHBG_uc009wrz.3_Silent_p.L319L|RHBG_uc001for.3_Silent_p.L321L	NM_020407	NP_065140	Q9H310	RHBG_HUMAN	Homo sapiens Rh family, B glycoprotein (gene/pseudogene) (RHBG), transcript variant 1, mRNA.	351					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GCCGGGGGTCCTGGGGGCCCT	0.562000														81			69		0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	30011032	30011032	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr15:30011032G>A	uc001zcr.3	-	20	3789	c.3314C>T	c.(3313-3315)cCt>cTt	p.P1105L	TJP1_uc010azl.3_Missense_Mutation_p.P1093L|TJP1_uc001zcq.3_Missense_Mutation_p.P1029L|TJP1_uc001zcs.3_Missense_Mutation_p.P1025L	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	1105					cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		ATTATCAAAAGGTGGCCGAGA	0.493000														78			61		0	0	1	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240825	39240825	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:39240825C>T	uc010wfn.2	+	0	367	c.367C>T	c.(367-369)Cca>Tca	p.P123S		NM_033061	NP_149050			Homo sapiens keratin associated protein 4-7 (KRTAP4-7), mRNA.											NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						ctgcCTGCGTCCAGTCTGTGG	0.657000														11			5		0	0	1	0	0
CUL4A	8451	broad.mit.edu	37	13	113897351	113897351	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr13:113897351A>C	uc021rmv.1	+	10	1116	c.1105A>C	c.(1105-1107)Aag>Cag	p.K369Q	CUL4A_uc021rmu.1_Missense_Mutation_p.K269Q|CUL4A_uc010agu.3_Missense_Mutation_p.K230Q|CUL4A_uc010tjz.2_Missense_Mutation_p.K48Q	NM_001008895	NP_003580	Q13619	CUL4A_HUMAN	Homo sapiens cullin 4A (CUL4A), transcript variant 1, mRNA.	369					DNA repair|G1/S transition of mitotic cell cycle|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			GTTGGACTTCAAGGACAAGGT	0.458000														57			28		0	0	1	0	0
MAEA	10296	broad.mit.edu	37	4	1309274	1309274	+	Silent	SNP	C	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr4:1309274C>A	uc003gda.3	+	2	372	c.342C>A	c.(340-342)ccC>ccA	p.P114P	MAEA_uc010ibs.1_Silent_p.P114P|MAEA_uc003gdd.3_Non-coding_Transcript|MAEA_uc003gdb.3_Silent_p.P114P|MAEA_uc011bvb.2_Intron|MAEA_uc003gdc.3_Silent_p.P114P|MAEA_uc011bvc.2_Silent_p.P113P|MAEA_uc011bvd.2_Silent_p.P66P|MAEA_uc010ibt.3_5'UTR	NM_001017405	NP_001017405	Q7L5Y9	MAEA_HUMAN	Homo sapiens macrophage erythroblast attacher (MAEA), transcript variant 1, mRNA.	114	Extracellular and involved in cell to cell contact.				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			GCGACCAGCCCGCGGCGGCCA	0.647000														101			31		1.08312e-15	1.08878e-15	1	1	0
SPATA16	83893	broad.mit.edu	37	3	172674552	172674552	+	Silent	SNP	C	T	T	rs138951243		TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:172674552C>T	uc003fin.4	-	5	1180	c.996G>A	c.(994-996)gcG>gcA	p.A332A		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.	332					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TTATTTTTGTCGCAAATGGTG	0.368000														27			12		0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45773622	45773622	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr21:45773622G>A	uc010gpt.1	+	0	139	c.39G>A	c.(37-39)caG>caA	p.Q13Q	TRPM2_uc002zet.1_Silent_p.Q13Q|TRPM2_uc002zeu.1_Silent_p.Q13Q|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.Q13Q	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	13						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCTCGGAGCAGGAGGAGGGCT	0.637000														4			9		0	0	1	0	0
QSOX2	169714	broad.mit.edu	37	9	139100613	139100613	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr9:139100613G>A	uc010nbi.2	-	11	2096	c.2058C>T	c.(2056-2058)tcC>tcT	p.S686S		NM_181701	NP_859052	Q6ZRP7	QSOX2_HUMAN	Homo sapiens quiescin Q6 sulfhydryl oxidase 2 (QSOX2), mRNA.	686					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		TCCACCGCCTGGACCTCACCC	0.632000														64			38		0	0	1	0	0
C19orf55	148137	broad.mit.edu	37	19	36256067	36256067	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:36256067C>T	uc021usz.1	+	6	832	c.759C>T	c.(757-759)ccC>ccT	p.P253P		NM_001039887	NP_001034976	Q2NL68	CS055_HUMAN	Homo sapiens chromosome 19 open reading frame 55 (C19orf55), mRNA.	253										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCCTTGGCCCCAGGGCACCCG	0.622000														38			30		0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115754821	115754821	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr4:115754821C>T	uc003ibu.3	-	11	3016	c.2337G>A	c.(2335-2337)atG>atA	p.M779I	NDST4_uc010imw.3_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	779	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GGACTTCATCCATCACAGTAG	0.358000														16			10		0	0	1	0	0
CPNE4	131034	broad.mit.edu	37	3	131261425	131261425	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:131261425G>A	uc011blq.2	-	14	1679	c.1569C>T	c.(1567-1569)ttC>ttT	p.F523F	CPNE4_uc003eok.3_Silent_p.F505F|CPNE4_uc003eol.3_Silent_p.F523F|CPNE4_uc003eom.3_Silent_p.F505F|CPNE4_uc003eoj.3_Silent_p.F56F	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	Homo sapiens copine IV (CPNE4), mRNA.	505										central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TGAAGGGCACGAACTGGACGA	0.507000														37			29		0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5903059	5903059	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr20:5903059C>T	uc002wmg.3	+	3	575	c.269C>T	c.(268-270)gCt>gTt	p.A90V	CHGB_uc010zqz.2_Intron	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	90						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AGAGACCCAGCTGATGCCTCG	0.478000														18			12		0	0	1	0	0
PPP2R3C	55012	broad.mit.edu	37	14	35568517	35568517	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr14:35568517G>A	uc001wss.3	-	6	1001	c.647C>T	c.(646-648)tCc>tTc	p.S216F	PPP2R3C_uc001wst.3_Missense_Mutation_p.S100F|PPP2R3C_uc010tpr.2_Missense_Mutation_p.S100F|PPP2R3C_uc001wsu.3_Non-coding_Transcript|PPP2R3C_uc010amn.1_Missense_Mutation_p.S122F|AK128559_uc001wsv.1_5'Flank	NM_017917	NP_060387	Q969Q6	P2R3C_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', gamma (PPP2R3C), mRNA.	216						centrosome|nucleus	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		AACATAAAAGGAGTAGAAAGA	0.294000														9			7		0	0	1	0	0
STAT3	6774	broad.mit.edu	37	17	40475298	40475298	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:40475298G>A	uc002hzl.1	-	18	1968	c.1728C>T	c.(1726-1728)atC>atT	p.I576I	STAT3_uc002hzk.1_Silent_p.I576I|STAT3_uc002hzm.1_Silent_p.I576I|STAT3_uc010wgh.1_Silent_p.I478I|STAT3_uc002hzn.1_Silent_p.I576I	NM_139276	NP_644805	P40763	STAT3_HUMAN	Homo sapiens signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3), transcript variant 1, mRNA.	576					JAK-STAT cascade involved in growth hormone signaling pathway|cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		AAAGGGCCAGGATGTACTTTT	0.517000									Hyperimmunoglobulin E Recurrent Infection Syndrome		OREG0024421	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		94			61		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7519914	7519914	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:7519914C>T	uc010sge.2	-	17	4253	c.4227G>A	c.(4225-4227)agG>agA	p.R1409R	CD163L1_uc001qsy.3_Silent_p.R1399R	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	1399						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			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						GAGAACCCCTCCTTCTGGTTG	0.453000														22			4		0	0	1	0	0
APLN	8862	broad.mit.edu	37	X	128782727	128782727	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chrX:128782727C>T	uc004eus.3	-	1	436	c.110G>A	c.(109-111)gGc>gAc	p.G37D		NM_017413	NP_059109	Q9ULZ1	APEL_HUMAN	Homo sapiens apelin (APLN), mRNA.	37					immune response|lactation|signal transduction		hormone activity										GCGGACATTGCCGTCTTCCAG	0.652000														1			2		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14775984	14775984	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr9:14775984G>T	uc003zlm.3	-	25	5476	c.4660C>A	c.(4660-4662)Cag>Aag	p.Q1554K	FREM1_uc010mic.3_Intron|FREM1_uc003zlk.3_5'Flank|FREM1_uc003zll.3_Missense_Mutation_p.Q90K	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1554					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGGTAGAGCTGGCCATGCTGG	0.597000														22			45		2.35958e-20	2.37606e-20	1	1	0
MYH8	4626	broad.mit.edu	37	17	10323473	10323473	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:10323473C>T	uc002gmm.2	-	2	167	c.72G>A	c.(70-72)aaG>aaA	p.K24K	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	24	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			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						CAATCCGCTCCTTTTCTGATT	0.473000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					80			47		0	0	1	0	0
RAB3A	5864	broad.mit.edu	37	19	18313430	18313430	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:18313430G>A	uc002nie.2	-	1	290	c.121C>T	c.(121-123)Cgc>Tgc	p.R41C		NM_002866	NP_002857	P20336	RAB3A_HUMAN	Homo sapiens RAB3A, member RAS oncogene family (RAB3A), mRNA.	41					glutamate secretion|protein transport|small GTPase mediated signal transduction	clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						TCAGCATAGCGGAAGAGGAAG	0.542000											OREG0025360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		118			91		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140764916	140764916	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr5:140764916C>T	uc003ljz.1	+	0	2450	c.2450C>T	c.(2449-2451)cCa>cTa	p.P817L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'Flank|PCDHGC5_uc003lkc.2_5'Flank	NM_032087	NP_114476	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 7 (PCDHGA7), transcript variant 2, mRNA.	0					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTTATTTCCATGAGGAATT	0.318000														30			10		0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118624180	118624180	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:118624180C>T	uc001ehk.2	-	13	1916	c.1848G>A	c.(1846-1848)ggG>ggA	p.G616G	SPAG17_uc021oss.1_5'Flank	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	616						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GTTTCAGTTTCCCTTTTTCAT	0.438000														52			44		0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89521711	89521711	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:89521711G>A	uc003dqy.3	+	15	3013	c.2788G>A	c.(2788-2790)Gaa>Aaa	p.E930K	EPHA3_uc021xbf.1_Intron	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	930	SAM.					extracellular region|integral to plasma membrane	ATP binding	p.E930K(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ACACTGCAAGGAAATCTTCAC	0.423000										TSP Lung(6;0.00050)				75			32		0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130222605	130222605	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chrX:130222605C>T	uc004evz.3	+	11	1835	c.1490C>T	c.(1489-1491)tCc>tTc	p.S497F	ARHGAP36_uc004ewa.3_Missense_Mutation_p.S485F|ARHGAP36_uc004ewb.3_Missense_Mutation_p.S466F|ARHGAP36_uc004ewc.3_Missense_Mutation_p.S361F	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	497					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			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						TTTTCAGGTTCCTCTGAGGAG	0.488000														6			17		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106967482	106967482	+	RNA	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr14:106967482C>T	uc021ser.1	-	263		c.10018G>A								Parts of antibodies, mostly variable regions.																		AGGTCCAGTCCATGGTGAAGA	0.498000														49			25		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179595913	179595913	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:179595913C>T	uc021vsy.1	-	56	13972	c.13747G>A	c.(13747-13749)Gag>Aag	p.E4583K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E1244K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5510	Ig-like 26.						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)			ACAGCTTCCTCGGTGATTGTT	0.448000														140			72		0	0	1	0	0
MYO6	4646	broad.mit.edu	37	6	76564889	76564889	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr6:76564889C>T	uc003pih.1	+	11	1391	c.1112C>T	c.(1111-1113)tCt>tTt	p.S371F	MYO6_uc003pig.1_Missense_Mutation_p.S371F|MYO6_uc003pii.1_Missense_Mutation_p.S371F	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	Homo sapiens myosin VI (MYO6), mRNA.	371	Myosin head-like.				DNA damage response, signal transduction by p53 class mediator|actin filament-based movement|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	DNA-directed RNA polymerase II, holoenzyme|Golgi apparatus|cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|filamentous actin|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	ADP binding|ATP binding|actin filament binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		TCTGCTCAGTCTTTGGAATAT	0.353000														15			9		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145006586	145006586	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr8:145006586G>A	uc003zaf.1	-	15	2540	c.2370C>T	c.(2368-2370)gcC>gcT	p.A790A	PLEC_uc003zab.1_Silent_p.A653A|PLEC_uc003zac.1_Silent_p.A657A|PLEC_uc003zad.2_Silent_p.A653A|PLEC_uc003zae.1_Silent_p.A621A|PLEC_uc003zag.1_Silent_p.A631A|PLEC_uc003zah.2_Silent_p.A639A|PLEC_uc003zaj.2_Silent_p.A680A	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	790	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCTCCTTCTTGGCGGTCATGT	0.627000														66			37		0	0	1	0	0
SELENBP1	8991	broad.mit.edu	37	1	151338051	151338051	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:151338051G>A	uc010pcy.2	-	8	1288	c.1158C>T	c.(1156-1158)cgC>cgT	p.R386R	SELENBP1_uc001exx.3_Silent_p.R344R|SELENBP1_uc010pcz.2_Silent_p.R282R|SELENBP1_uc001eya.3_Silent_p.R280R	NM_003944	NP_003935	Q13228	SBP1_HUMAN	Homo sapiens selenium binding protein 1 (SELENBP1), mRNA.	344					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTCCTGTGAGGCGGGGTCTCT	0.592000														129			128		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10304487	10304487	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:10304487C>T	uc002gmm.2	-	24	3225	c.3130G>A	c.(3130-3132)Gaa>Aaa	p.E1044K	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1044					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			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						AGCTTCTTTTCTTGTTCCAGA	0.338000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					31			22		0	0	1	0	0
POP5	51367	broad.mit.edu	37	12	121019202	121019202	+	Splice_Site	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:121019202G>A	uc001tys.3	-	1	1	c.-35_splice	c.e1-1		POP5_uc001tyt.3_Splice_Site	NM_015918	NP_057002	Q969H6	POP5_HUMAN	Homo sapiens processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae) (POP5), transcript variant 1, mRNA.						tRNA processing		protein binding|ribonuclease P activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	all_neural(191;0.077)|Medulloblastoma(191;0.0922)					CGTGCAAACCGGATGTGAATT	0.577000														12			4		0	0	1	0	0
ACAD10	80724	broad.mit.edu	37	12	112187045	112187045	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:112187045C>T	uc009zvx.3	+	18	3006	c.2806C>T	c.(2806-2808)Cga>Tga	p.R936*	ACAD10_uc001tsq.3_Nonsense_Mutation_p.R905*|ACAD10_uc001tss.1_Intron	NM_001136538	NP_001130010	Q6JQN1	ACD10_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 10 (ACAD10), transcript variant 1, mRNA.	905							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GGGCCCTGGCCGAGGCTTTGA	0.592000														203			5		0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717538	142717538	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chrX:142717538C>T	uc022cfm.1	-	0	1387	c.1387G>A	c.(1387-1389)Gaa>Aaa	p.E463K	SLITRK4_uc022cfl.1_Missense_Mutation_p.E463K|SLITRK4_uc004fbx.3_Missense_Mutation_p.E463K|SLITRK4_uc004fby.3_Missense_Mutation_p.E463K	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	463						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					GCTGAGATTTCCTTAATCAAA	0.378000														5			42		0	0	1	0	0
PTPN11	5781	broad.mit.edu	37	12	112884163	112884163	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:112884163C>T	uc001ttx.3	+	1	478	c.98C>T	c.(97-99)cCt>cTt	p.P33L	PTPN11_uc001ttw.1_Missense_Mutation_p.P33L	NM_002834	NP_002825	Q06124	PTN11_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA.	33	SH2 1.				T cell costimulation|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|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			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						TTGGCAAGGCCTAGTAAAAGT	0.418000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome					84			44		0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187693387	187693387	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:187693387G>A	uc002upu.1	-	8	1266	c.1226C>T	c.(1225-1227)tCa>tTa	p.S409L		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	409					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			GTCTCTGTTTGAAACAGACTG	0.348000														21			8		0	0	1	0	0
NT5E	4907	broad.mit.edu	37	6	86176949	86176949	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr6:86176949G>C	uc003pko.4	+	1	1067	c.511G>C	c.(511-513)Gtg>Ctg	p.V171L	NT5E_uc003pkn.3_Missense_Mutation_p.V171L|NT5E_uc010kbr.3_Missense_Mutation_p.V171L	NM_002526	NP_002517	P21589	5NTD_HUMAN	Homo sapiens 5'-nucleotidase, ecto (CD73) (NT5E), transcript variant 1, mRNA.	171					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	TGATGAAGTTGTGGGAATCGT	0.378000														22			13		0	0	1	0	0
GOT2	2806	broad.mit.edu	37	16	58756091	58756091	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr16:58756091G>A	uc002eof.1	-	2	452	c.338C>T	c.(337-339)gCc>gTc	p.A113V	GOT2_uc010vim.1_Intron	NM_002080	NP_002071	P00505	AATM_HUMAN	Homo sapiens glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2) (GOT2), nuclear gene encoding mitochondrial protein, mRNA.	113					aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CTCACCCAGGGCTAGTTCTGC	0.483000														14			59		0	0	1	0	0
TMEM178	130733	broad.mit.edu	37	2	39931246	39931246	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:39931246C>T	uc002rrt.3	+	1	506	c.426C>T	c.(424-426)atC>atT	p.I142I	TMEM178_uc021vgg.1_5'UTR|TMEM178_uc010fam.2_Silent_p.I142I	NM_152390	NP_689603	Q8NBL3	TM178_HUMAN	Homo sapiens transmembrane protein 178 (TMEM178), transcript variant 1, mRNA.	142						integral to membrane				endometrium(1)|large_intestine(5)|lung(5)	11		all_hematologic(82;0.248)				GCACGGCCATCAAGTACCACT	0.443000														37			24		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6985390	6985390	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr18:6985390C>T	uc002knm.3	-	38	5600	c.5506G>A	c.(5506-5508)Gat>Aat	p.D1836N	LAMA1_uc010wzj.2_Missense_Mutation_p.D1312N	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1836	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCCTGGTGATCCTCTAAGTGC	0.383000														44			29		0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74639936	74639936	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr18:74639936G>A	uc002lmi.3	+	24	4660	c.4462G>A	c.(4462-4464)Ggc>Agc	p.G1488S	ZNF236_uc002lmj.3_Non-coding_Transcript	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	1488					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GTCCCCCTCCGGCGGTCCCCA	0.552000														39			25		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104105274	104105274	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:104105274G>A	uc001tjw.3	+	39	4500	c.4314G>A	c.(4312-4314)ggG>ggA	p.G1438G	STAB2_uc009zug.3_5'Flank	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1438	EGF-like 11.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ACTGCAATGGGACATGCCATA	0.463000														39			42		0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54782776	54782776	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:54782776G>A	uc002qfb.3	-	5	1112	c.846C>T	c.(844-846)acC>acT	p.T282T	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Silent_p.T282T|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Silent_p.T282T|LILRB2_uc010yet.2_Silent_p.T166T|LILRB2_uc010yeu.1_Non-coding_Transcript	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	282	Ig-like C2-type 3.				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			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)		CAGGGCCCAGGGTGAAGTTGG	0.647000														57			25		0	0	1	0	0
DLG1	1739	broad.mit.edu	37	3	197009613	197009613	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:197009613G>A	uc010ial.3	-	3	514	c.255C>T	c.(253-255)tcC>tcT	p.S85S	DLG1_uc011bud.2_5'UTR|DLG1_uc003fxo.4_Silent_p.S85S|DLG1_uc003fxn.4_Silent_p.S85S|DLG1_uc011bue.2_Silent_p.S85S|DLG1_uc011buf.1_Non-coding_Transcript|DLG1_uc003fxp.2_Non-coding_Transcript|DLG1_uc010iam.1_Silent_p.S85S	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	Homo sapiens discs, large homolog 1 (Drosophila) (DLG1), transcript variant 1, mRNA.	85					actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	MPP7-DLG1-LIN7 complex|basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	L27 domain binding|cytoskeletal protein binding|guanylate kinase activity|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein C-terminus binding|protein binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TTGGAAGGCTGGAAATCTCCC	0.408000														72			56		0	0	1	0	0
NDUFB7	4713	broad.mit.edu	37	19	14682741	14682741	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:14682741G>A	uc002mzg.3	-	0	149	c.72C>T	c.(70-72)acC>acT	p.T24T		NM_004146	NP_004137	P17568	NDUB7_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa (NDUFB7), nuclear gene encoding mitochondrial protein, mRNA.	24					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8					NADH(DB00157)	CTGGCGGGAAGGTTGGCATCT	0.711000														22			11		0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30318498	30318498	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr10:30318498C>T	uc009xle.2	-	2	716	c.579G>A	c.(577-579)agG>agA	p.R193R	KIAA1462_uc001iux.3_Silent_p.R193R|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Silent_p.R55R	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	193								p.P192T(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCCCTAATTTCCTTGGCTGGT	0.473000														112			96		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24784105	24784105	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr10:24784105G>A	uc001iru.4	+	7	2217	c.1814G>A	c.(1813-1815)aGg>aAg	p.R605K	KIAA1217_uc001irs.3_Missense_Mutation_p.R525K|KIAA1217_uc001irt.4_Missense_Mutation_p.R570K|KIAA1217_uc010qcy.2_Missense_Mutation_p.R570K|KIAA1217_uc010qcz.2_Missense_Mutation_p.R570K|KIAA1217_uc001irv.1_Missense_Mutation_p.R420K|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Missense_Mutation_p.R288K|KIAA1217_uc001irz.3_Missense_Mutation_p.R288K|KIAA1217_uc001irx.3_Missense_Mutation_p.R288K|KIAA1217_uc001iry.3_Missense_Mutation_p.R288K	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	605					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ACAGCCAACAGGAACCACACA	0.423000														39			28		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764234	92764234	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:92764234C>T	uc003umh.1	-	4	2267	c.1051G>A	c.(1051-1053)Gat>Aat	p.D351N	SAMD9L_uc003umj.1_Missense_Mutation_p.D351N|SAMD9L_uc003umi.1_Missense_Mutation_p.D351N|SAMD9L_uc010lfb.1_Missense_Mutation_p.D351N|SAMD9L_uc003umk.1_Missense_Mutation_p.D351N|SAMD9L_uc010lfc.1_Missense_Mutation_p.D351N|SAMD9L_uc010lfd.1_Missense_Mutation_p.D351N|SAMD9L_uc022ahh.1_Missense_Mutation_p.D351N	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	351										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GCCAGGATATCCCTAGAGCTA	0.353000														53			91		0	0	1	0	0
PRODH2	58510	broad.mit.edu	37	19	36304179	36304179	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:36304179G>A	uc002obx.1	-	0	23	c.5C>T	c.(4-6)tCg>tTg	p.S2L		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA.	2					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity	p.S2S(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			taccctgggcgacatagtgag	0.468000														4			6		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103194177	103194177	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:103194177C>T	uc022ajr.1	-	38	6059	c.5899G>A	c.(5899-5901)Gaa>Aaa	p.E1967K	RELN_uc022ajq.1_Missense_Mutation_p.E1967K|RELN_uc010liz.3_Missense_Mutation_p.E1967K	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1967					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAATTGTCTTCTCTGGGCCCA	0.358000														28			49		0	0	1	0	0
OR7D2	162998	broad.mit.edu	37	19	9297090	9297090	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:9297090C>T	uc002mkz.1	+	0	821	c.633C>T	c.(631-633)ctC>ctT	p.L211L		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 2 (OR7D2), mRNA.	211					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TTTTTCCCCTCCTTGGGATCA	0.483000														45			33		0	0	1	0	0
COPA	1314	broad.mit.edu	37	1	160303462	160303462	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:160303462G>A	uc001fvv.4	-	4	711	c.317C>T	c.(316-318)cCc>cTc	p.P106L	COPA_uc009wti.3_Missense_Mutation_p.P106L|COPA_uc009wtj.1_Missense_Mutation_p.P52L	NM_001098398	NP_001091868	P53621	COPA_HUMAN	Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA.	106					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAGAATCCAGGGATATTCCTG	0.418000														9			13		0	0	1	0	0
CTAGE10P	220429	broad.mit.edu	37	13	50467026	50467026	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr13:50467026G>A	uc001vdk.2	+	0	2482	c.2300G>A	c.(2299-2301)gGa>gAa	p.G767E						Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																		CCAAGACCTGGATTTTCCCCC	0.522000														46			18		0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94499740	94499740	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr9:94499740G>A	uc004arj.2	-	4	754	c.555C>T	c.(553-555)ttC>ttT	p.F185F	ROR2_uc004ari.1_Silent_p.F45F|ROR2_uc004ark.3_Silent_p.F185F	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	185	FZ.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGTTGCCAATGAAGCGTGCAC	0.517000														61			45		0	0	1	0	0
PHF21B	112885	broad.mit.edu	37	22	45312488	45312488	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr22:45312488G>A	uc003bfn.3	-	3	387	c.236C>T	c.(235-237)cCa>cTa	p.P79L	PHF21B_uc011aqk.2_Missense_Mutation_p.P67L|PHF21B_uc003bfm.3_5'UTR|PHF21B_uc011aql.2_Missense_Mutation_p.P79L|PHF21B_uc011aqm.1_Missense_Mutation_p.P67L	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	Homo sapiens PHD finger protein 21B (PHF21B), transcript variant 1, mRNA.	79							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		GAGGCTGTCTGGAATCAGAGT	0.652000														52			36		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38951132	38951132	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:38951132G>A	uc002oit.3	+	19	2608	c.2478G>A	c.(2476-2478)aaG>aaA	p.K826K	RYR1_uc002oiu.3_Silent_p.K826K	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	826					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AACCCATCAAGGAGTATCGAC	0.642000														89			69		0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223177609	223177609	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:223177609C>T	uc001hnu.2	+	9	3196	c.2870C>T	c.(2869-2871)tCg>tTg	p.S957L		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	957					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GAGCTGAGTTCGGCCCCTGAA	0.502000														24			17		0	0	1	0	0
GPC4	2239	broad.mit.edu	37	X	132437219	132437219	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chrX:132437219C>T	uc004exc.1	-	7	1655	c.1443G>A	c.(1441-1443)ggG>ggA	p.G481G	GPC4_uc011mvg.1_Silent_p.G411G	NM_001448	NP_001439	O75487	GPC4_HUMAN	Homo sapiens glypican 4 (GPC4), mRNA.	481					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					CCACGTCGTTCCCATTGTATG	0.418000														19			53		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79034076	79034076	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr5:79034076G>A	uc003kgc.3	+	1	9560	c.9488G>A	c.(9487-9489)gGa>gAa	p.G3163E		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	3163						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GCAGAGGAAGGAGTTCTATCA	0.428000														32			20		0	0	1	0	0
GCNT3	9245	broad.mit.edu	37	15	59911717	59911717	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr15:59911717A>T	uc002age.3	+	2	1729	c.1280A>T	c.(1279-1281)tAc>tTc	p.Y427F	GCNT3_uc002agd.3_Missense_Mutation_p.Y427F|GCNT3_uc021smz.1_Missense_Mutation_p.Y427F	NM_004751	NP_004742	O95395	GCNT3_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 3, mucin type (GCNT3), mRNA.	427					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTAGAAGAATACCTACGTTAT	0.458000														86			51		0	0	1	0	0
EHMT1	79813	broad.mit.edu	37	9	140674131	140674132	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr9:140674131_140674132CC>TT	uc011mfc.2	+	13	2274_2275	c.2237_2238CC>TT	c.(2236-2238)gcc>gTT	p.A746V	EHMT1_uc004coa.3_Missense_Mutation_p.A746V|EHMT1_uc004cob.1_Missense_Mutation_p.A715V	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 1 (EHMT1), transcript variant 1, mRNA.	746					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TACTTCTCCGCCAGGCAAGGGG	0.594000														31			23		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179547547	179547547	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:179547547C>T	uc021vsy.1	-	131	29464	c.29239G>A	c.(29239-29241)Gaa>Aaa	p.E9747K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6408K|TTN_uc010fre.1_Missense_Mutation_p.E594K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10674	Ig-like 78.						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)			TCTTCATATTCCTCATATTCT	0.343000														29			25		0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101562661	101562661	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr15:101562661C>T	uc002bwr.3	+	14	2245	c.1926C>T	c.(1924-1926)atC>atT	p.I642I	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	642	Roc.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGAAGATGATCATCGTGGGTC	0.587000														47			30		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195498553	195498553	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:195498553G>A	uc021xjp.1	-	4	13368	c.13212C>T	c.(13210-13212)ttC>ttT	p.F4404F	MUC4_uc003fuz.3_Missense_Mutation_p.S84F|MUC4_uc003fva.3_5'UTR|MUC4_uc003fvb.3_5'UTR|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_5'UTR|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_5'UTR|MUC4_uc021xjn.1_Silent_p.F145F|MUC4_uc021xjo.1_5'UTR|MUC4_uc021xjg.1_5'UTR|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_5'UTR|MUC4_uc021xjj.1_5'UTR|MUC4_uc021xjk.1_Silent_p.F145F|MUC4_uc021xjl.1_5'UTR|MUC4_uc003fvo.3_Silent_p.F168F|MUC4_uc003fvp.3_Silent_p.F117F	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1161					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GACCAGTGGAGAAGTCAGCAT	0.587000														31			23		0	0	1	0	0
ANO7	50636	broad.mit.edu	37	2	242142852	242142852	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:242142852G>A	uc002wax.2	+	8	1093	c.990G>A	c.(988-990)caG>caA	p.Q330Q		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	Homo sapiens anoctamin 7 (ANO7), transcript variant NGEP-L, mRNA.	330						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						ACAAGTACCAGCCCCTGGACC	0.687000														8			5		0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71387649	71387649	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:71387649G>A	uc010dfm.3	-	27	3927	c.3927C>T	c.(3925-3927)ttC>ttT	p.F1309F	SDK2_uc002jjt.4_Silent_p.F468F|SDK2_uc010dfn.2_Silent_p.F988F	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1309	Fibronectin type-III 8.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GCACCTCTGGGAACAGGATGC	0.667000														16			6		0	0	1	0	0
MIA2	117153	broad.mit.edu	37	14	39722333	39722333	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr14:39722333C>T	uc001wux.3	+	5	2039	c.1845C>T	c.(1843-1845)ttC>ttT	p.F615F		NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	Homo sapiens melanoma inhibitory activity 2 (MIA2), mRNA.	0						extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		TTTATGATTTCATGAATTCTG	0.259000														25			17		0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57181315	57181315	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr4:57181315C>T	uc003hbk.2	+	7	2038	c.1647C>T	c.(1645-1647)ctC>ctT	p.L549L	KIAA1211_uc010iha.2_Silent_p.L542L|KIAA1211_uc011bzz.1_Silent_p.L459L|KIAA1211_uc003hbm.1_Silent_p.L435L	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	549										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGCAGATTCTCTTTCCCAAAG	0.652000														10			8		0	0	1	0	0
SMPD3	55512	broad.mit.edu	37	16	68405281	68405281	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr16:68405281C>T	uc002ewa.3	-	2	1226	c.804G>A	c.(802-804)agG>agA	p.R268R	SMPD3_uc010cfe.3_Silent_p.R268R|SMPD3_uc010vlh.2_Silent_p.R268R	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) (SMPD3), mRNA.	268					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CAGCTCCGTTCCTGGCCTGGC	0.716000														5			29		0	0	1	0	0
OR6K6	128371	broad.mit.edu	37	1	158724660	158724660	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:158724660C>T	uc001fsw.1	+	0	55	c.55C>T	c.(55-57)Cct>Tct	p.P19S		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA.	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TCTCTTGTTTCCTTTTCTGTG	0.438000														84			37		0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54299235	54299235	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:54299235G>A	uc002qcj.4	-	8	3199	c.2979C>T	c.(2977-2979)ttC>ttT	p.F993F	NLRP12_uc010eqw.3_Silent_p.F218F|NLRP12_uc002qch.4_Silent_p.F992F|NLRP12_uc002qci.4_Silent_p.F935F|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Intron	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	992					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCCCCAGGGTGAAGTAAAGAT	0.527000														31			18		0	0	1	0	0
MALT1	10892	broad.mit.edu	37	18	56400684	56400684	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr18:56400684C>T	uc002lhm.1	+	10	1536	c.1278C>T	c.(1276-1278)gtC>gtT	p.V426V	MALT1_uc002lhn.1_Silent_p.V415V	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN	Homo sapiens mucosa associated lymphoid tissue lymphoma translocation gene 1 (MALT1), transcript variant 1, mRNA.	426	Caspase-like.				T cell receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|positive regulation of phosphorylation|positive regulation of protein ubiquitination|protein oligomerization|proteolysis	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						GCTTCATGGTCCCCGTTGATG	0.338000			T	BIRC3	MALT									35			22		0	0	1	0	0
HSD3B1	3283	broad.mit.edu	37	1	120050152	120050152	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:120050152G>A	uc001ehv.1	+	1	198	c.53G>A	c.(52-54)aGg>aAg	p.R18K		NM_000862	NP_000853	P14060	3BHS1_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 (HSD3B1), mRNA.	18					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	CTGGGACAGAGGATCATCCGC	0.517000														40			35		0	0	1	0	0
STXBP2	6813	broad.mit.edu	37	19	7711206	7711206	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:7711206C>T	uc010xjr.2	+	15	1506	c.1461C>T	c.(1459-1461)acC>acT	p.T487T	STXBP2_uc002mha.4_Silent_p.T476T|STXBP2_uc002mhb.4_Silent_p.T473T|STXBP2_uc010dvj.3_Non-coding_Transcript|STXBP2_uc002mhe.1_Silent_p.T104T	NM_006949	NP_008880	Q15833	STXB2_HUMAN	Homo sapiens syntaxin binding protein 2 (STXBP2), transcript variant 1, mRNA.	476					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						CCCGCTGGACCCCGGTCATCA	0.687000														19			6		0	0	1	0	0
FCGR2A	2212	broad.mit.edu	37	1	161476237	161476237	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:161476237C>T	uc001gan.3	+	2	273	c.220C>T	c.(220-222)Cag>Tag	p.Q74*	FCGR2A_uc001gam.3_Nonsense_Mutation_p.Q73*|FCGR2A_uc021pcz.1_Non-coding_Transcript|FCGR2A_uc021pda.1_Non-coding_Transcript	NM_001136219	NP_001129691	P12318	FCG2A_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIa, receptor (CD32) (FCGR2A), transcript variant 1, mRNA.	74	Ig-like C2-type 1.					integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CGACTCCATTCAGTGGTTCCA	0.587000														77			39		0	0	1	0	0
CHST15	51363	broad.mit.edu	37	10	125801959	125801959	+	Silent	SNP	G	A	A	rs142086366		TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr10:125801959G>A	uc001lhn.3	-	3	1625	c.891C>T	c.(889-891)atC>atT	p.I297I	CHST15_uc001lhm.3_Silent_p.I297I|CHST15_uc010que.2_Silent_p.I297I|CHST15_uc001lho.3_Silent_p.I297I	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 (CHST15), transcript variant 1, mRNA.	297					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TTAGGCGGACGATTCCTATGA	0.542000														15			21		0	0	1	0	0
TULP2	7288	broad.mit.edu	37	19	49385371	49385371	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:49385371C>T	uc002pkz.2	-	11	1516	c.1365G>A	c.(1363-1365)gaG>gaA	p.E455E		NM_003323	NP_003314	O00295	TULP2_HUMAN	Homo sapiens tubby like protein 2 (TULP2), mRNA.	455					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		AGACACCGTTCTCCTTGTCCC	0.512000														51			44		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41199882	41199882	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr5:41199882G>A	uc003jmk.2	-	3	643	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	C6_uc003jml.1_Missense_Mutation_p.R145C	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	145	LDL-receptor class A.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.R145P(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGTCACAGCGAAATTTATTC	0.413000														76			59		0	0	1	0	0
DTL	51514	broad.mit.edu	37	1	212273882	212273882	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:212273882C>T	uc009xdc.3	+	13	1864	c.1550C>T	c.(1549-1551)cCa>cTa	p.P517L	DTL_uc010ptb.2_Missense_Mutation_p.P475L|DTL_uc001hiz.4_Missense_Mutation_p.P246L	NM_016448	NP_057532	Q9NZJ0	DTL_HUMAN	Homo sapiens denticleless homolog (Drosophila) (DTL), mRNA.	517					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|centrosome|nuclear membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		CCCATCACTCCACCTGCTTCG	0.512000														56			20		0	0	1	0	0
GLRA4	441509	broad.mit.edu	37	X	102979937	102979937	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chrX:102979937C>T	uc011mse.2	-	1	512	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	GLRA4_uc010nou.2_Missense_Mutation_p.E31K	NM_001024452	NP_001019623	Q5JXX5	GLRA4_HUMAN	Homo sapiens glycine receptor, alpha 4 (GLRA4), transcript variant 1, mRNA.	31						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GATTTGACTTCCTCTTTTGCC	0.517000														1			11		0	0	1	0	0
FAM166B	730112	broad.mit.edu	37	9	35562910	35562910	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr9:35562910C>T	uc011low.2	-	2	525	c.454G>A	c.(454-456)Ggg>Agg	p.G152R	FAM166B_uc003zwy.3_Missense_Mutation_p.G152R|FAM166B_uc010mkr.3_Missense_Mutation_p.G152R|FAM166B_uc011lov.2_Missense_Mutation_p.G152R			A8MTA8	F166B_HUMAN	Homo sapiens family with sequence similarity 166, member B (FAM166B), transcript variant 2, mRNA.	152								p.E151D(1)		kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						TCCAGCTGCCCCTCCGGCTCT	0.567000														50			34		0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21606171	21606171	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:21606171C>T	uc002npw.3	+	3	829	c.710C>T	c.(709-711)tCc>tTc	p.S237F	ZNF493_uc002npx.3_Missense_Mutation_p.S109F|ZNF493_uc002npy.3_Missense_Mutation_p.S109F|ZNF493_uc021urq.1_Missense_Mutation_p.S109F	NM_001076678	NP_787106	Q6ZR52	ZN493_HUMAN	Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA.	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						GGAGAGAAATCCTACAAATAT	0.373000														42			16		0	0	1	0	0
GALNTL5	168391	broad.mit.edu	37	7	151716758	151716758	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:151716758C>T	uc003wkp.3	+	8	1474	c.1204C>T	c.(1204-1206)Ctg>Ttg	p.L402L	GALNTL5_uc010lqf.3_Silent_p.L291L|GALNTL5_uc003wkq.3_Silent_p.L153L|GALNTL5_uc003wkr.3_Non-coding_Transcript|GALNTL5_uc003wks.3_Non-coding_Transcript	NM_145292	NP_660335	Q7Z4T8	GLTL5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 (GALNTL5), transcript variant 1, mRNA.	402						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	p.G401S(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		AAAGCCTGGTCTGAAATATGT	0.383000														59			25		0	0	1	0	0
MAZ	4150	broad.mit.edu	37	16	29818754	29818754	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr16:29818754G>A	uc002dtx.3	+	1	816	c.648G>A	c.(646-648)aaG>aaA	p.K216K	BOLA2_uc010bzb.1_Intron|MAZ_uc010vdx.2_Silent_p.K193K|MAZ_uc002dty.3_Silent_p.K216K|MAZ_uc002dtz.1_5'Flank	NM_001042539	NP_001036004	P56270	MAZ_HUMAN	Homo sapiens MYC-associated zinc finger protein (purine-binding transcription factor) (MAZ), transcript variant 2, mRNA.	216					regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|RNA binding|protein binding|zinc ion binding			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						CGGGAGCCAAGGCCGGCCGGG	0.662000														29			23		0	0	1	0	0
PRF1	5551	broad.mit.edu	37	10	72358265	72358265	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr10:72358265G>A	uc009xqg.3	-	2	1373	c.1212C>T	c.(1210-1212)acC>acT	p.T404T	PRF1_uc001jrf.4_Silent_p.T404T	NM_001083116	NP_005032	P14222	PERF_HUMAN	Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript variant 2, mRNA.	404	EGF-like.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						AGCAGTCCTGGGTGGTGACCG	0.692000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis					8			18		0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108334232	108334232	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr8:108334232C>T	uc003ymn.3	-	3	1168	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K	ANGPT1_uc011lhv.2_Missense_Mutation_p.E34K|ANGPT1_uc003ymo.3_Missense_Mutation_p.E234K|ANGPT1_uc003ymp.4_Missense_Mutation_p.E34K	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	234					Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			AATTGCTTTTCCAGCTCCTGG	0.428000														55			70		0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124180576	124180576	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:124180576G>A	uc010sag.2	-	0	87	c.87C>T	c.(85-87)ctC>ctT	p.L29L		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		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;0.0528)		CCAGGAACAGGAGGAAGAGGG	0.478000														26			51		0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5355675	5355675	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:5355675G>A	uc003soi.4	-	24	7123	c.6774C>T	c.(6772-6774)gaC>gaT	p.D2258D		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	2258							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CGGTGATCAAGTCCCCATCGT	0.592000														33			43		0	0	1	0	0
IGFL3	388555	broad.mit.edu	37	19	46627285	46627285	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:46627285C>T	uc002pea.1	-	2	233	c.208G>A	c.(208-210)Ggc>Agc	p.G70S		NM_207393	NP_997276	Q6UXB1	IGFL3_HUMAN	Homo sapiens IGF-like family member 3 (IGFL3), mRNA.	70						extracellular region	protein binding			endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		CAGGTGGAGCCACAGCGGCGG	0.542000														87			55		0	0	1	0	0
DDX24	57062	broad.mit.edu	37	14	94528939	94528939	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr14:94528939G>A	uc001ycj.3	-	2	846	c.747C>T	c.(745-747)atC>atT	p.I249I	DDX24_uc010twq.2_Silent_p.I206I|DDX24_uc010twr.2_5'UTR	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 (DDX24), mRNA.	249	Helicase ATP-binding.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		GAATCATTGGGATGGCAAAGG	0.448000														57			30		0	0	1	0	0
FLII	2314	broad.mit.edu	37	17	18148563	18148563	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:18148563G>A	uc002gsr.1	-	29	3750	c.3699C>T	c.(3697-3699)tcC>tcT	p.S1233S	FLII_uc002gsq.1_Silent_p.S1104S|FLII_uc010vxn.1_Silent_p.S1202S|FLII_uc010vxo.1_Silent_p.S1178S	NM_002018	NP_002009	Q13045	FLII_HUMAN	Homo sapiens flightless I homolog (Drosophila) (FLII), transcript variant 1, mRNA.	1233					multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					CATGTTCCTTGGACCGCATGT	0.662000														99			76		0	0	1	0	0
OR2L3	391192	broad.mit.edu	37	1	248224274	248224274	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:248224274G>A	uc001idx.1	+	0	291	c.291G>A	c.(289-291)ggG>ggA	p.G97G	OR2L13_uc001ids.3_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA.	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G97A(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	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;0.0278)			CTGGGTGTGGGATTCAGAGTT	0.433000														135			143		0	0	1	0	0
VPS16	64601	broad.mit.edu	37	20	2841211	2841211	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr20:2841211C>T	uc002whe.3	+	4	534	c.486C>T	c.(484-486)ctC>ctT	p.L162L	VPS16_uc002whf.3_Silent_p.L162L|VPS16_uc002whg.3_5'Flank	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	Homo sapiens vacuolar protein sorting 16 homolog (S. cerevisiae) (VPS16), transcript variant 1, mRNA.	162					intracellular protein transport	HOPS complex|early endosome|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						TGGGTGACCTCAAACTCCGCC	0.582000														29			14		0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317117	30317117	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr10:30317117C>T	uc009xle.2	-	2	2097	c.1960G>A	c.(1960-1962)Gaa>Aaa	p.E654K	KIAA1462_uc001iux.3_Missense_Mutation_p.E654K|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.E516K	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	654										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCTTCTGGTTCCCCTAGATCT	0.517000														33			15		0	0	1	0	0
SBSPON	157869	broad.mit.edu	37	8	73979646	73979646	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr8:73979646C>T	uc003xzf.3	-	4	930	c.725G>A	c.(724-726)gGa>gAa	p.G242E		NM_153225	NP_694957	Q8IVN8	RPESP_HUMAN	Homo sapiens chromosome 8 open reading frame 84 (C8orf84), mRNA.	242					immune response	extracellular region	polysaccharide binding|scavenger receptor activity										TTTCCAAGTTCCTTGACACCG	0.368000														58			28		0	0	1	0	0
BTN3A3	10384	broad.mit.edu	37	6	26452036	26452036	+	Silent	SNP	C	T	T	rs139835450		TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr6:26452036C>T	uc003nhz.3	+	10	1395	c.1152C>T	c.(1150-1152)gtC>gtT	p.V384V	BTN3A3_uc011dkn.2_Silent_p.V335V|BTN3A3_uc021ynh.1_Silent_p.V174V	NM_006994	NP_008925	O00478	BT3A3_HUMAN	Homo sapiens butyrophilin, subfamily 3, member A3 (BTN3A3), transcript variant 1, mRNA.	384	B30.2/SPRY.					integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						GTTACTGTGTCCTTGGCTGTG	0.517000														31			33		0	0	1	0	0
OR2T5	401993	broad.mit.edu	37	1	248652006	248652006	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:248652006C>T	uc001iem.1	+	0	117	c.117C>T	c.(115-117)ttC>ttT	p.F39F		NM_001004697	NP_001004697	Q6IEZ7	OR2T5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 5 (OR2T5), mRNA.	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(2)|pancreas(1)|skin(2)	9	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)			TTGTGGTTTTCCTGAAGGCGT	0.478000														121			40		0	0	1	0	0
OR51T1	401665	broad.mit.edu	37	11	4903316	4903316	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:4903316T>C	uc010qyp.2	+	0	268	c.268T>C	c.(268-270)Tat>Cat	p.Y90H		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA.	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACCCATGTATTATTTCCTCTC	0.478000														77			24		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089213	9089213	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:9089213C>T	uc002mkp.3	-	0	2806	c.2602G>A	c.(2602-2604)Gaa>Aaa	p.E868K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	868	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCGAAGTTTCCTCTGTTTCT	0.478000														37			19		0	0	1	0	0
ACSM3	6296	broad.mit.edu	37	16	20793095	20793095	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr16:20793095G>A	uc010vba.2	+	6	1167	c.1092G>A	c.(1090-1092)caG>caA	p.Q364Q	ACSM3_uc002dhq.3_Silent_p.Q335Q|ACSM3_uc002dhr.3_Silent_p.Q335Q|ERI2_uc002dhs.3_Intron	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 3 (ACSM3), transcript variant 1, mRNA.	335					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						TGCTTGTACAGAATGATATAA	0.393000														31			17		0	0	1	0	0
CXCR2	3579	broad.mit.edu	37	2	219000488	219000488	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:219000488C>T	uc002vgz.2	+	3	1174	c.964C>T	c.(964-966)Cgc>Tgc	p.R322C	CXCR2_uc002vha.2_Missense_Mutation_p.R322C|CXCR2_uc002vhb.2_Missense_Mutation_p.R322C|CXCR2_uc021vwp.1_Missense_Mutation_p.R322C	NM_001168298	NP_001548	P25025	CXCR2_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 2 (CXCR2), transcript variant 2, mRNA.	322					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CCAGAAGTTTCGCCATGGACT	0.547000														66			50		0	0	1	0	0
IL1R1	3554	broad.mit.edu	37	2	102781440	102781440	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:102781440G>A	uc002tbq.3	+	3	586	c.268G>A	c.(268-270)Gat>Aat	p.D90N	IL1R1_uc010fix.3_Missense_Mutation_p.D90N|IL1R1_uc002tbr.3_Missense_Mutation_p.D90N	NM_000877	NP_000868	P14778	IL1R1_HUMAN	Homo sapiens interleukin 1 receptor, type I (IL1R1), mRNA.	90	Ig-like C2-type 1.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	TAAGGTGGAGGATTCAGGACA	0.383000														42			26		0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	25071642	25071642	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:25071642G>A	uc001mqs.3	+	9	1098	c.824G>A	c.(823-825)gGa>gAa	p.G275E	LUZP2_uc009yif.3_Missense_Mutation_p.G189E|LUZP2_uc009yig.3_Missense_Mutation_p.G233E	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA.	275						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						ACAAAGGAAGGAAATCCAAGT	0.368000														51			22		0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31418929	31418929	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr16:31418929G>A	uc010cap.1	+	7	847	c.798G>A	c.(796-798)ctG>ctA	p.L266L	ITGAD_uc010vfl.1_Silent_p.L266L|ITGAD_uc002ebv.1_Silent_p.L266L|ITGAD_uc002ebw.1_Silent_p.L77L	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	266	VWFA.				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AAGACCCCCTGGAATACAGTG	0.547000														52			43		0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	175184918	175184918	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:175184918C>T	uc003fit.3	+	7	1566	c.1479C>T	c.(1477-1479)ttC>ttT	p.F493F	NAALADL2_uc003fiu.1_Silent_p.F486F|NAALADL2_uc010hwy.1_Silent_p.F267F|NAALADL2_uc010hwz.1_Silent_p.F87F	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA.	493					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CTATTGTTTTCTGTTCTTGGG	0.403000														30			28		0	0	1	0	0
RXRA	6256	broad.mit.edu	37	9	137313635	137313635	+	Silent	SNP	C	T	T	rs72554630		TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr9:137313635C>T	uc004cfb.2	+	5	1056	c.894C>T	c.(892-894)gtC>gtT	p.V298V	RXRA_uc004cfc.1_Silent_p.V201V|RXRA_uc004cfd.1_Silent_p.V69V	NM_002957	NP_002948	P19793	RXRA_HUMAN	Homo sapiens retinoid X receptor, alpha (RXRA), mRNA.	298	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	ACGACCAGGTCATCCTGCTGC	0.622000														45			24		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89979729	89979729	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr5:89979729C>T	uc003kju.3	+	27	6087	c.5991C>T	c.(5989-5991)atC>atT	p.I1997I	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1997					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCCAGAACATCACACTATCAA	0.373000														7			14		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196722188	196722188	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:196722188G>A	uc002utj.4	-	43	8428	c.8327C>T	c.(8326-8328)cCa>cTa	p.P2776L		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2776	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TACAAAATCTGGATTTGGAAT	0.363000														37			19		0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4510978	4510978	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:4510978G>A	uc002mar.1	-	2	2952	c.2952C>T	c.(2950-2952)ttC>ttT	p.F984F	PLIN4_uc010dub.1_Silent_p.F8F	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	984	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TAACCCCACTGAAGACAGTGT	0.617000														33			23		0	0	1	0	0
C16orf7	9605	broad.mit.edu	37	16	89777094	89777094	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr16:89777094G>A	uc002fom.1	-	9	1283	c.1158C>T	c.(1156-1158)ttC>ttT	p.F386F	C16orf7_uc002fol.1_Silent_p.F316F|LOC100128881_uc002fon.1_5'Flank	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	Homo sapiens chromosome 16 open reading frame 7 (C16orf7), mRNA.	386					ATP synthesis coupled proton transport		GTPase activator activity|transporter activity			breast(1)|lung(3)|ovary(1)	5		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		ACGTCCCCAGGAACTGCTCCA	0.682000														9			22		0	0	1	0	0
TCRB	0	broad.mit.edu	37	7	142119881	142119881	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:142119881G>A	uc022anf.1	-	1	330	c.301C>T	c.(301-303)Ctg>Ttg	p.L101L	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022ane.1_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		TGAATCGTCAGAGTGGAGATG	0.537000														89			37		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169512053	169512053	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:169512053C>T	uc001ggg.1	-	12	2420	c.2275G>A	c.(2275-2277)Gag>Aag	p.E759K		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	759	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GTGCCATTCTCCAGAGCTAGG	0.388000														133			63		0	0	1	0	0
PTGIR	5739	broad.mit.edu	37	19	47126970	47126970	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:47126970G>A	uc002pex.3	-	1	626	c.513C>T	c.(511-513)ttC>ttT	p.F171F		NM_000960	NP_000951	P43119	PI2R_HUMAN	Homo sapiens prostaglandin I2 (prostacyclin) receptor (IP) (PTGIR), mRNA.	171					G-protein signaling, coupled to cyclic nucleotide second messenger|cell-cell signaling|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)	GCATGCGGAGGAAGCACCAGC	0.711000														3			3		0	0	1	0	0
SNX15	29907	broad.mit.edu	37	11	64800005	64800005	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:64800005C>T	uc001oci.4	+	5	892	c.238C>T	c.(238-240)Ccc>Tcc	p.P80S	SNX15_uc001ock.3_Missense_Mutation_p.P80S	NM_013306	NP_037438	Q9NRS6	SNX15_HUMAN	Homo sapiens sorting nexin 15 (SNX15), transcript variant A, mRNA.	80	PX.				cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity	p.F79F(1)		endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						CCCTGCTTTCCCCCGGGCCCA	0.627000														11			26		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52321411	52321411	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr8:52321411G>A	uc003xqu.4	-	16	2874	c.2773C>T	c.(2773-2775)Cct>Tct	p.P925S	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	925					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			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)				GGAGGCCAAGGAAAGCCTGTC	0.627000														21			18		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57766236	57766236	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr20:57766236C>T	uc002yan.3	+	0	162	c.162C>T	c.(160-162)ttC>ttT	p.F54F		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	54	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCACTGTGTTCCTGAAGGCCC	0.726000														21			19		0	0	1	0	0
KLK12	43849	broad.mit.edu	37	19	51532448	51532448	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:51532448C>T	uc002pvh.1	-	6	845	c.728G>A	c.(727-729)gGa>gAa	p.G243E	KLK11_uc002pvc.4_5'Flank|KLK11_uc002pvd.1_5'Flank|KLK11_uc002pve.1_5'Flank|KLK11_uc002pvb.2_5'Flank|KLK11_uc002pvf.1_5'Flank|KLK11_uc010eom.3_5'Flank|KLK12_uc002pvg.1_3'UTR|KLK12_uc010ycp.1_Non-coding_Transcript|KLK12_uc010ycq.1_Missense_Mutation_p.G133E|KLK12_uc010ycr.1_3'UTR|KLK12_uc010ycs.1_3'UTR|KLK12_uc002pvi.1_3'UTR|KLK12_uc002pvj.1_3'UTR	NM_019598	NP_062544	Q9UKR0	KLK12_HUMAN	Homo sapiens kallikrein-related peptidase 12 (KLK12), transcript variant 1, mRNA.	0	Peptidase S1.				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		CCAAGAAGTTCCCAGGCCAAC	0.532000														52			26		0	0	1	0	0
HBBP1	3044	broad.mit.edu	37	11	5264349	5264349	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:5264349G>A	uc001mag.3	-	1	353	c.137C>T	c.(136-138)cCt>cTt	p.P46L						Homo sapiens hemoglobin, beta pseudogene 1 (HBBP1), non-coding RNA.																		GAAGTTCTCAGGGTCCACGTG	0.468000														10			13		0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161139840	161139840	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr6:161139840C>T	uc003qtm.4	+	8	1178	c.1066C>T	c.(1066-1068)Cca>Tca	p.P356S		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	356					extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TGACTCCTCCCCAGTATCCAC	0.517000														24			13		0	0	1	0	0
GLT1D1	144423	broad.mit.edu	37	12	129431887	129431887	+	Missense_Mutation	SNP	G	C	C	rs144885531		TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:129431887G>C	uc010tbh.1	+	10	688	c.679G>C	c.(679-681)Gct>Cct	p.A227P	GLT1D1_uc001uhx.1_Missense_Mutation_p.A142P|GLT1D1_uc001uhy.1_Non-coding_Transcript	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN	Homo sapiens glycosyltransferase 1 domain containing 1 (GLT1D1), mRNA.	222					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		TTTCAGAGCCGCTGGGGTACG	0.502000														34			6		0	0	1	0	0
AKT1	207	broad.mit.edu	37	14	105239613	105239613	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr14:105239613C>T	uc001ypk.3	-	9	1486	c.932G>A	c.(931-933)gGc>gAc	p.G311D	AKT1_uc001ypl.3_Missense_Mutation_p.G311D|AKT1_uc010axa.3_Missense_Mutation_p.G311D|AKT1_uc001ypm.3_Missense_Mutation_p.G311D|AKT1_uc001ypn.3_Missense_Mutation_p.G311D|AKT1_uc001ypj.3_5'Flank|AKT1_uc010tyk.2_Missense_Mutation_p.G249D	NM_005163	NP_005154	P31749	AKT1_HUMAN	Homo sapiens v-akt murine thymoma viral oncogene homolog 1 (AKT1), transcript variant 1, mRNA.	311	Protein kinase.				G-protein coupled receptor protein signaling pathway|T cell costimulation|activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to UV-A|response to fluid shear stress|response to heat	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	CTCAGGTGTGCCGCAAAAGGT	0.602000		1	Mis		"""breast, colorectal, ovarian, NSCLC"""									26			33		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70517804	70517804	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr14:70517804G>A	uc001xly.3	-	5	2806	c.2052C>T	c.(2050-2052)atC>atT	p.I684I	SLC8A3_uc001xlv.3_Silent_p.I55I|SLC8A3_uc001xlu.3_Silent_p.I41I|SLC8A3_uc001xlw.3_Silent_p.I681I|SLC8A3_uc001xlx.3_Silent_p.I682I|SLC8A3_uc001xlz.3_Silent_p.I678I|SLC8A3_uc010ara.3_Non-coding_Transcript|SLC8A3_uc001xma.2_Silent_p.I41I	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	684					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TTGTCTTCTTGATCAGTTTGT	0.493000														35			24		0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111697604	111697604	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr6:111697604C>T	uc003puy.4	-	12	2295	c.1954G>A	c.(1954-1956)Gta>Ata	p.V652I	REV3L_uc003pux.4_Missense_Mutation_p.V574I|REV3L_uc003puz.4_Missense_Mutation_p.V574I	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	652					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CAGGAAGATACTGGGAGGATC	0.313000								DNA polymerases (catalytic subunits)						24			12		0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17165618	17165618	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr10:17165618G>A	uc001ioo.3	-	4	510	c.458C>T	c.(457-459)tCc>tTc	p.S153F		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	153	EGF-like 1.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACAAAAAAAGGAATCATGCAG	0.443000														14			10		0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33628356	33628356	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr13:33628356G>A	uc001uus.3	+	1	1280	c.1272G>A	c.(1270-1272)aaG>aaA	p.K424K	KL_uc001uur.1_Silent_p.K117K	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	424	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GGACCACCAAGAGAGATGATG	0.393000														89			56		0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55595452	55595452	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:55595452G>A	uc001nhy.1	+	0	758	c.758G>A	c.(757-759)gGa>gAa	p.G253E		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				GTCTCCCATGGAACAATCCTT	0.493000										HNSCC(27;0.073)				27			42		0	0	1	0	0
SCGB1C1	147199	broad.mit.edu	37	11	193781	193781	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:193781C>T	uc001loa.1	+	1	145	c.125C>T	c.(124-126)cCa>cTa	p.P42L	ODF3_uc001lob.3_5'Flank|ODF3_uc010qvk.2_5'Flank	NM_145651	NP_663626	Q8TD33	SG1C1_HUMAN	Homo sapiens secretoglobin, family 1C, member 1 (SCGB1C1), mRNA.	42						extracellular region	binding			endometrium(1)|liver(2)|lung(1)|skin(1)	5		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GTGGGGACCCCAGAGGAGCTC	0.537000														85			14		0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167223161	167223161	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:167223161C>T	uc003fev.1	-	12	2066	c.1762G>A	c.(1762-1764)Gaa>Aaa	p.E588K	WDR49_uc003feu.1_Missense_Mutation_p.E413K|WDR49_uc011bpd.1_Missense_Mutation_p.E553K|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	588										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GTACTTCTTTCCTTATATTTT	0.279000														15			9		0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	92999117	92999117	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr8:92999117G>A	uc022axs.1	-	7	1439	c.1252C>T	c.(1252-1254)Cat>Tat	p.H418Y	RUNX1T1_uc003yfc.2_Missense_Mutation_p.H332Y|RUNX1T1_uc010mam.3_Missense_Mutation_p.H332Y|RUNX1T1_uc003yfe.2_Missense_Mutation_p.H322Y|RUNX1T1_uc003yfd.3_Missense_Mutation_p.H359Y|RUNX1T1_uc022axo.1_Missense_Mutation_p.H359Y|RUNX1T1_uc010mao.3_Missense_Mutation_p.H332Y|RUNX1T1_uc011lgi.2_Missense_Mutation_p.H370Y|RUNX1T1_uc022axp.1_Missense_Mutation_p.H359Y|RUNX1T1_uc022axq.1_Missense_Mutation_p.H359Y|RUNX1T1_uc022axr.1_Missense_Mutation_p.H359Y|RUNX1T1_uc022axt.1_Missense_Mutation_p.H359Y|RUNX1T1_uc022axu.1_Missense_Mutation_p.H339Y|RUNX1T1_uc022axv.1_Missense_Mutation_p.H359Y|RUNX1T1_uc010man.2_5'UTR|RUNX1T1_uc003yfb.2_Missense_Mutation_p.H322Y	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	359					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TGTCTTACATGGTCAAGATGT	0.378000														80			63		0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22941865	22941865	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:22941865C>T	uc021urt.1	-	3	1001	c.846G>A	c.(844-846)aaG>aaA	p.K282K		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.									p.E282*(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TATATGGTTTCTTCCCAGTAT	0.353000														26			10		0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85383528	85383528	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr15:85383528C>T	uc002ble.3	+	4	1791	c.1624C>T	c.(1624-1626)Cgt>Tgt	p.R542C		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	542					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCAAAGCCGCCGTTCTTCAGA	0.587000														31			27		0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21938077	21938077	+	RNA	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr15:21938077C>T	uc010tzj.1	-	0		c.2663G>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		CCTGCTCATTCGCACGGGAGG	0.512000														299			28		0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6055815	6055815	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr4:6055815G>A	uc010idb.1	-	12	2254	c.1768C>T	c.(1768-1770)Cag>Tag	p.Q590*	JAKMIP1_uc010idc.1_Nonsense_Mutation_p.Q405*|JAKMIP1_uc010idd.1_Intron|JAKMIP1_uc003giu.4_Nonsense_Mutation_p.Q590*|JAKMIP1_uc011bwc.2_Nonsense_Mutation_p.Q425*|JAKMIP1_uc003giv.4_Nonsense_Mutation_p.Q590*|JAKMIP1_uc010ide.3_3'UTR	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	590	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGCTCGTTCTGATCCTTGGCG	0.433000														100			46		0	0	1	0	0
ERAP2	64167	broad.mit.edu	37	5	96237351	96237351	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr5:96237351C>T	uc003kmq.3	+	10	2424	c.1714C>T	c.(1714-1716)Cag>Tag	p.Q572*	ERAP1_uc003kmo.1_Intron|ERAP2_uc003kmt.3_Nonsense_Mutation_p.Q572*|ERAP2_uc003kmr.3_Non-coding_Transcript|ERAP2_uc003kms.3_Nonsense_Mutation_p.Q521*|ERAP2_uc003kmu.3_Non-coding_Transcript	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	Homo sapiens endoplasmic reticulum aminopeptidase 2 (ERAP2), transcript variant 1, mRNA.	572					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		GGGGGTTTTCCAGGAAGACCC	0.517000														23			11		0	0	1	0	0
KLK2	3817	broad.mit.edu	37	19	51378017	51378017	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:51378017G>A	uc002ptv.3	+	1	128	c.87G>A	c.(85-87)tgG>tgA	p.W29*	KLK2_uc010eog.3_Intron|KLK2_uc010yck.2_Nonsense_Mutation_p.W29*|KLK2_uc002ptt.3_Non-coding_Transcript|KLK2_uc010ycl.2_5'UTR|KLK2_uc010ycm.2_Intron|KLK2_uc002ptu.3_Nonsense_Mutation_p.W29*	NM_005551	NP_005542	P20151	KLK2_HUMAN	Homo sapiens kallikrein-related peptidase 2 (KLK2), transcript variant 1, mRNA.	29	Peptidase S1.				proteolysis		serine-type endopeptidase activity		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		TGGGAGGCTGGGAGTGTGAGA	0.622000			T	ETV4	prostate									39			17		0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50530734	50530734	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr10:50530734C>T	uc021pqb.1	+	0	144	c.144C>T	c.(142-144)ttC>ttT	p.F48F	C10orf71_uc021pqa.1_Silent_p.F47F|C10orf71_uc021pqc.1_Silent_p.F48F	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	48										endometrium(1)	1						ACACATCCTTCCATGACTCCT	0.557000														8			16		0	0	1	0	0
ALDH3A2	224	broad.mit.edu	37	17	19559790	19559790	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:19559790G>A	uc002gwa.1	+	3	804	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	ALDH3A2_uc002gwb.1_Missense_Mutation_p.E195K|ALDH3A2_uc010cqr.1_Missense_Mutation_p.E2K|ALDH3A2_uc002gwd.1_Missense_Mutation_p.E2K	NM_001031806	NP_001026976	P51648	AL3A2_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member A2 (ALDH3A2), transcript variant 1, mRNA.	195					cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)				NADH(DB00157)	AATTGTCATGGAAGCTGCTGC	0.458000														15			12		0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169393646	169393646	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr4:169393646C>T	uc021xuh.1	-	1	144	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K	DDX60L_uc003irq.4_Missense_Mutation_p.E12K|DDX60L_uc003irr.1_Missense_Mutation_p.E12K|DDX60L_uc003irt.1_Missense_Mutation_p.E12K	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	12							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TGTGTCATTTCCCTGAAAAAT	0.313000														5			4		0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73635795	73635795	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr15:73635795C>T	uc002avp.3	-	1	2134	c.1140G>A	c.(1138-1140)acG>acA	p.T380T		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	380					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	p.T380T(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TGAGGATCTTCGTGAAGCGGA	0.552000														30			14		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78848418	78848418	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr9:78848418G>A	uc004akc.2	+	21	3310	c.2772G>A	c.(2770-2772)tgG>tgA	p.W924*		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	625					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCCCCTCATGGAAATTTGAAT	0.502000														48			22		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117400	117400	+	RNA	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chrGL000205.1:117400G>A	uc002kgk.4	+	0		c.778G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AGTTCTAAACGAAGTCGTGGG	0.567000														66			5		0	0	1	0	0
TAP2	6891	broad.mit.edu	37	6	32782254	32782254	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr6:32782254C>T	uc011dqf.1	-	13	2429	c.2307G>A	c.(2305-2307)caG>caA	p.Q769Q	TAP2_uc003oca.3_Silent_p.Q162Q|TAP2_uc011dqg.1_Silent_p.Q162Q	NM_018833	NP_061313	Q03519	TAP2_HUMAN	Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.	0					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of T cell mediated cytotoxicity|positive regulation of antigen processing and presentation of peptide antigen via MHC class I	TAP complex|nucleus|plasma membrane	ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|tapasin binding										CTCTCTCCTCCTGCCCATTCA	0.527000														88			60		0	0	1	0	0
SLC26A5	375611	broad.mit.edu	37	7	103050936	103050937	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:103050936_103050937GG>AA	uc003vbz.3	-	6	892_893	c.630_631CC>TT	c.(628-633)gtccgt>gtTTgt	p.R211C	SLC26A5_uc003vbt.2_Missense_Mutation_p.R211C|SLC26A5_uc003vbu.2_Missense_Mutation_p.R211C|SLC26A5_uc003vbv.2_Missense_Mutation_p.R211C|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Missense_Mutation_p.R211C	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	211					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						GTAAACCCACGGACCAGAGGCT	0.411000														42			14		0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14566000	14566000	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:14566000C>T	uc021wtn.1	-	4	594	c.594G>A	c.(592-594)ggG>ggA	p.G198G	GRIP2_uc003byu.1_3'UTR|GRIP2_uc003byv.1_Silent_p.G101G	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	101	PDZ 2.				synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						TCAGGTGGATCCCGTTCACAG	0.592000														4			4		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	121929509	121929509	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr9:121929509C>T	uc004bkc.2	-	7	2595	c.2139G>A	c.(2137-2139)ggG>ggA	p.G713G		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	713					cell cycle arrest|cell death	cytoplasm	protein binding	p.P712L(1)|p.P712T(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GCTGGGGTTTCCCCGGGGCCA	0.552000														69			39		0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39874594	39874594	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr15:39874594C>T	uc001zkh.3	+	2	447	c.268C>T	c.(268-270)Ctt>Ttt	p.L90F		NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	90	Heparin-binding.|TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GGGTTTCCTCCTTCTGGCATC	0.602000														35			25		0	0	1	0	0
UBAP2L	9898	broad.mit.edu	37	1	154229841	154229841	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:154229841C>T	uc001fep.4	+	19	2540	c.2373C>T	c.(2371-2373)ctC>ctT	p.L791L	UBAP2L_uc009wot.3_Silent_p.L791L|UBAP2L_uc010pek.2_Silent_p.L783L|UBAP2L_uc010pel.2_Silent_p.L801L|UBAP2L_uc010pen.2_Silent_p.L705L|UBAP2L_uc001feq.3_5'UTR|UBAP2L_uc001fer.3_5'UTR|SNORA58_uc021pae.1_5'Flank	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	Homo sapiens ubiquitin associated protein 2-like (UBAP2L), transcript variant 1, mRNA.	791					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTCCCAACCTCCCTCCTGGGG	0.468000														44			25		0	0	1	0	0
DNAI2	64446	broad.mit.edu	37	17	72287263	72287263	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:72287263G>A	uc002jkf.3	+	5	825	c.715G>A	c.(715-717)Gga>Aga	p.G239R	DNAI2_uc002jkg.3_Missense_Mutation_p.G239R|DNAI2_uc010dfp.3_Non-coding_Transcript	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 2 (DNAI2), transcript variant 1, mRNA.	239					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	p.G239*(4)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CTGCTACAATGGACAGATAGG	0.458000									Kartagener syndrome					251			108		0	0	1	0	0
MUCL1	118430	broad.mit.edu	37	12	55248901	55248901	+	Splice_Site	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:55248901G>A	uc001sgk.3	+	2	127	c.59_splice	c.e2-1	p.Q20_splice		NM_058173	NP_477521	Q96DR8	MUCL1_HUMAN	Homo sapiens mucin-like 1 (MUCL1), mRNA.	20						extracellular region|membrane				breast(1)|kidney(1)|lung(1)	3						CTCTTTCAGAGAATCCGACAA	0.418000														16			10		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52287174	52287174	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr8:52287174C>T	uc003xqu.4	-	17	3776	c.3675G>A	c.(3673-3675)cgG>cgA	p.R1225R	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	1225					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			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)				CATCTCTTAGCCGCTGAAACT	0.393000														29			24		0	0	1	0	0
HOMER2	9455	broad.mit.edu	37	15	83561585	83561585	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr15:83561585G>A	uc002bjg.3	-	1	203	c.14C>T	c.(13-15)cCc>cTc	p.P5L	HOMER2_uc002bjh.3_Missense_Mutation_p.P5L	NM_199330	NP_955362	Q9NSB8	HOME2_HUMAN	Homo sapiens homer homolog 2 (Drosophila) (HOMER2), transcript variant 2, mRNA.	5	WH1.				metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				cervix(1)|endometrium(2)|lung(6)	9						GGTGAAGATGGGCTGTTCTCT	0.473000														61			25		0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971053	21971053	+	Missense_Mutation	SNP	G	A	A	rs137854598		TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr9:21971053G>A	uc003zpk.3	-	1	611	c.305C>T	c.(304-306)gCg>gTg	p.A102V	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Missense_Mutation_p.A102V|CDKN2A_uc003zpl.3_Silent_p.G116G	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	102			A -> E (in LFS; somatic mutation).|A -> T (in dbSNP:rs35741010).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.A102V(6)|p.A102E(4)|p.G101G(3)|p.A102A(2)|p.T93_D105del(2)|p.G101W(2)|p.H83fs*2(2)|p.A102fs*42(2)|p.A102fs*18(1)|p.A102P(1)|p.0(1)|p.G101fs*17(1)|p.A68fs*3(1)|p.A102T(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GTCCAGCCGCGCCCCGGCCCG	0.751000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				4			30		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181724526	181724526	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:181724526G>A	uc009wxt.3	+	27	4177	c.3982G>A	c.(3982-3984)Gag>Aag	p.E1328K	CACNA1E_uc001gow.3_Missense_Mutation_p.E1328K|CACNA1E_uc009wxs.3_Missense_Mutation_p.E1309K|CACNA1E_uc001gox.1_Missense_Mutation_p.E554K	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1328					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.E1328K(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						CACAGAGAAGGAGTGCATGTA	0.483000														94			74		0	0	1	0	0
CD300A	11314	broad.mit.edu	37	17	72470795	72470795	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:72470795G>A	uc002jkv.3	+	2	825	c.504G>A	c.(502-504)caG>caA	p.Q168Q	CD300A_uc002jkw.3_Silent_p.Q55Q|CD300A_uc010dfr.3_Silent_p.Q55Q|CD300A_uc010dfs.3_Intron	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN	Homo sapiens CD300a molecule (CD300A), mRNA.	168					cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						CCAGCATCCAGGAGGAAACTG	0.577000														49			54		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10304034	10304034	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:10304034C>T	uc002gmm.2	-	26	3503	c.3408G>A	c.(3406-3408)gaG>gaA	p.E1136E	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1136					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			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						AGCGCTGCTTCTCCGCTTTGG	0.562000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					84			47		0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101076105	101076105	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr8:101076105C>T	uc003yjb.1	-	7	1086	c.891G>A	c.(889-891)aaG>aaA	p.K297K	RGS22_uc003yja.1_Silent_p.K116K|RGS22_uc003yjc.1_Silent_p.K285K|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_Silent_p.K201K	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	297					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CATCCTGTTTCTTTTCAAGGT	0.358000														99			44		0	0	1	0	0
NMUR1	10316	broad.mit.edu	37	2	232389900	232389900	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:232389900G>A	uc002vry.4	-	2	1245	c.1135C>T	c.(1135-1137)Cgc>Tgc	p.R379C		NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN	Homo sapiens neuromedin U receptor 1 (NMUR1), mRNA.	379					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GGTCTGAGGCGATGGCAGCAG	0.682000														24			22		0	0	1	0	0
ZNF737	100129842	broad.mit.edu	37	19	20727586	20727586	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:20727586G>A	uc002npa.3	-	3	1603	c.1423C>T	c.(1423-1425)Cat>Tat	p.H475Y		NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN	Homo sapiens zinc finger protein 737 (ZNF737), mRNA.	475					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TCTCCAGTATGAATTCTCTTA	0.408000														23			25		0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123909235	123909235	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:123909235C>T	uc001pzq.1	-	0	474	c.474G>A	c.(472-474)caG>caA	p.Q158Q		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		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)		TCAATATGGTCTGGACAGCAG	0.572000														74			102		0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55481532	55481532	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:55481532C>T	uc021vbq.1	+	1	260	c.149C>T	c.(148-150)gCt>gTt	p.A50V	NLRP2_uc010yfp.2_Intron|NLRP2_uc002qij.3_Missense_Mutation_p.A50V|NLRP2_uc010esp.3_Missense_Mutation_p.A50V|NLRP2_uc010esn.3_Missense_Mutation_p.A50V|NLRP2_uc010eso.3_Missense_Mutation_p.A50V	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	50	DAPIN.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GTAGACAAGGCTGATGGGAAG	0.527000														44			22		0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160769832	160769832	+	Silent	SNP	T	C	C			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:160769832T>C	uc001fwu.3	+	1	464	c.414T>C	c.(412-414)ttT>ttC	p.F138F	LY9_uc001fwt.3_Silent_p.F138F|LY9_uc010pjs.1_Silent_p.F138F|LY9_uc001fwv.3_Silent_p.F138F|LY9_uc001fww.3_Silent_p.F138F|LY9_uc001fwy.1_Silent_p.F40F	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	138	Ig-like V-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AAAGGAATTTTGAAGTCACCA	0.418000														70			47		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7348308	7348308	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:7348308C>T	uc003bqm.2	+	3	1276	c.1002C>T	c.(1000-1002)atC>atT	p.I334I	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Silent_p.I334I|GRM7_uc003bql.2_Silent_p.I334I|GRM7_uc003bqn.1_5'UTR	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	334					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	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			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)	AAGGGGCCATCACCATTCAGC	0.522000														45			21		0	0	1	0	0
PDP1	54704	broad.mit.edu	37	8	94935195	94935195	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr8:94935195G>A	uc011lgn.2	+	1	1134	c.1085G>A	c.(1084-1086)gGc>gAc	p.G362D	PDP1_uc003ygf.3_Missense_Mutation_p.G328D|PDP1_uc003yge.3_Missense_Mutation_p.G303D|PDP1_uc010max.3_Missense_Mutation_p.G328D|PDP1_uc011lgm.2_Missense_Mutation_p.G303D|PDP1_uc022ayg.1_Missense_Mutation_p.G303D	NM_001161778	NP_001155250	Q9P0J1	PDP1_HUMAN	Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 1 (PDP1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	303					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						GAAGAGGACGGCTCATGGTCA	0.512000														46			34		0	0	1	0	0
BCAM	4059	broad.mit.edu	37	19	45315788	45315788	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:45315788G>A	uc002ozu.3	+	3	531	c.487G>A	c.(487-489)Gag>Aag	p.E163K	BCAM_uc002ozt.1_Missense_Mutation_p.E163K	NM_005581	NP_005572	P50895	BCAM_HUMAN	Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA.	163	Ig-like V-type 2.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GTCTGTGATGGAGGACTCTGC	0.647000														42			15		0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19554522	19554522	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:19554522G>A	uc003cbk.1	+	12	2335	c.2140G>A	c.(2140-2142)Gaa>Aaa	p.E714K	KCNH8_uc010hex.1_Missense_Mutation_p.E175K	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	714	Poly-Glu.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						ggaagatgaggaagaggagga	0.483000														21			17		0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117232106	117232106	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr6:117232106C>T	uc003pxm.3	+	6	744	c.681C>T	c.(679-681)ttC>ttT	p.F227F		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	227					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						AGGGTGGCTTCACTCGTAAAT	0.343000														37			21		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20530587	20530587	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr4:20530587G>A	uc003gpr.1	+	15	1682	c.1478G>A	c.(1477-1479)cGa>cAa	p.R493Q	SLIT2_uc003gps.1_Missense_Mutation_p.R485Q	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	493					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding	p.R493*(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GAAGATTATCGATCAAAATTA	0.348000														49			32		0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96748784	96748784	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr10:96748784G>A	uc001kka.4	+	8	1497	c.1472G>A	c.(1471-1473)tGa>tAa	p.*491*	CYP2C9_uc009xut.3_Silent_p.*489*	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	0					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	ATTCCTGTCTGAAGAAGAGCA	0.507000														29			43		0	0	1	0	0
VIPR1	7433	broad.mit.edu	37	3	42572422	42572422	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:42572422G>A	uc003clf.2	+	6	912	c.788G>A	c.(787-789)tGg>tAg	p.W263*	VIPR1_uc021wwl.1_Nonsense_Mutation_p.W222*|VIPR1_uc011azn.2_Nonsense_Mutation_p.W236*|VIPR1_uc011azl.1_Nonsense_Mutation_p.W215*|VIPR1_uc011azm.1_Intron|VIPR1_uc003clg.2_5'Flank	NM_004624	NP_001238811	P32241	VIPR1_HUMAN	Homo sapiens vasoactive intestinal peptide receptor 1 (VIPR1), transcript variant 1, mRNA.	263					G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CTCATCGGCTGGGGTATGGTA	0.607000														56			39		0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	RNA	SNP	C	A	A	rs79307257	by1000genomes	TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:96593016C>A	uc010yug.1	-	26		c.1897G>T			ANKRD36C_uc002sva.1_Non-coding_Transcript|ANKRD36C_uc002svc.1_Non-coding_Transcript					Homo sapiens cDNA FLJ54441 complete cds, highly similar to Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.									p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318000														55			5		0.184627	0.184627	1	1	0
abParts	0	broad.mit.edu	37	2	89157181	89157181	+	RNA	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:89157181G>A	uc021vkt.1	-	299		c.10548C>T			abParts_uc002sti.1_Non-coding_Transcript|abParts_uc002stj.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		GAAGACAGATGGTGCAGCCAC	0.473000														7			5		0	0	1	0	0
KRTAP19-4	337971	broad.mit.edu	37	21	31869240	31869240	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr21:31869240C>T	uc011acz.2	-	0	189	c.189G>A	c.(187-189)ctG>ctA	p.L63L		NM_181610	NP_853641	Q3LI73	KR194_HUMAN	Homo sapiens keratin associated protein 19-4 (KRTAP19-4), mRNA.	63						intermediate filament				central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GGTAGGATTTCAGTAGAATTG	0.453000														26			66		0	0	1	0	0
NPY5R	4889	broad.mit.edu	37	4	164271851	164271851	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr4:164271851G>A	uc003iqn.3	+	3	608	c.426G>A	c.(424-426)atG>atA	p.M142I	NPY5R_uc021xtw.1_Missense_Mutation_p.M142I	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.	142					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				GGTATCATATGATAAAACATC	0.363000														93			50		0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242054769	242054770	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:242054769_242054770GG>AA	uc002wao.2	-	12	3264_3265	c.3131_3132CC>TT	c.(3130-3132)ccc>cTT	p.P1044L	PASK_uc010zol.2_Missense_Mutation_p.P858L|PASK_uc010zom.2_Missense_Mutation_p.P1009L|PASK_uc010fzl.2_Missense_Mutation_p.P1044L|PASK_uc010zon.2_Missense_Mutation_p.P825L|PASK_uc021vzf.1_Missense_Mutation_p.P1044L|PASK_uc002wap.3_Missense_Mutation_p.P587L|PASK_uc002waq.3_Missense_Mutation_p.P1044L	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	1044	Protein kinase.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		TCCCAAGTTTGGGATCCTCAAT	0.455000														38			30		0	0	1	0	0
LARGE	9215	broad.mit.edu	37	22	33700320	33700320	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr22:33700320G>A	uc003and.4	-	12	2204	c.1625C>T	c.(1624-1626)cCc>cTc	p.P542L	LARGE_uc011amd.2_Missense_Mutation_p.P341L|LARGE_uc003ane.4_Missense_Mutation_p.P542L|LARGE_uc010gwp.3_Missense_Mutation_p.P490L|LARGE_uc011ame.2_Missense_Mutation_p.P474L|LARGE_uc011amf.2_Missense_Mutation_p.P542L	NM_004737	NP_598397	O95461	LARGE_HUMAN	Homo sapiens like-glycosyltransferase (LARGE), transcript variant 1, mRNA.	542					N-acetylglucosamine metabolic process|glycosphingolipid biosynthetic process|muscle cell homeostasis|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				CAGGTTCACGGGGTAGAACTG	0.572000														77			60		0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104449350	104449350	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr9:104449350C>T	uc004bbp.2	-	1	1433	c.832G>A	c.(832-834)Gac>Aac	p.D278N	GRIN3A_uc004bbq.1_Missense_Mutation_p.D278N	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	278					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AGGAGGAAGTCGGTGATGTTC	0.468000														69			34		0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38103860	38103860	+	Splice_Site	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:38103860G>A	uc003chp.1	+	4	894	c.873_splice	c.e4+1	p.K291_splice	DLEC1_uc003cho.1_Splice_Site_p.K291_splice|DLEC1_uc010hgv.1_Splice_Site_p.K291_splice|DLEC1_uc010hgw.1_5'Flank|DLEC1_uc003chq.1_5'Flank	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	291					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		ACCTCTCAAGGTCAGTTTGGA	0.498000														27			14		0	0	1	0	0
PRIM1	5557	broad.mit.edu	37	12	57146014	57146014	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:57146014G>A	uc001smd.3	-	0	133	c.69C>T	c.(67-69)taC>taT	p.Y23Y		NM_000946	NP_000937	P49642	PRI1_HUMAN	Homo sapiens primase, DNA, polypeptide 1 (49kDa) (PRIM1), mRNA.	23					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	DNA primase activity|metal ion binding			kidney(1)|lung(6)|prostate(1)	8						AGTACTGAGAGTAGGGAAAGA	0.572000														9			7		0	0	1	0	0
ZFPL1	7542	broad.mit.edu	37	11	64854056	64854056	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:64854056C>T	uc001ocq.1	+	3	549	c.384C>T	c.(382-384)gcC>gcT	p.A128A	CDCA5_uc001ocp.2_5'Flank	NM_006782	NP_006773	O95159	ZFPL1_HUMAN	Homo sapiens zinc finger protein-like 1 (ZFPL1), mRNA.	128					regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						TCAACTGGGCCCGGGCAGGAC	0.642000														27			39		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21234342	21234342	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:21234342C>T	uc002red.3	-	25	5526	c.5398G>A	c.(5398-5400)Gac>Aac	p.D1800N		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1800					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TATTTCAGGTCACTGTTTAAA	0.408000														94			51		0	0	1	0	0
ACSS1	84532	broad.mit.edu	37	20	24994176	24994176	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr20:24994176G>A	uc002wub.3	-	9	1655	c.1575C>T	c.(1573-1575)taC>taT	p.Y525Y	ACSS1_uc002wuc.3_Silent_p.Y523Y|ACSS1_uc021wbm.1_Silent_p.Y525Y|ACSS1_uc010gdc.3_Silent_p.Y320Y|ACSS1_uc002wua.3_Silent_p.Y442Y|ACSS1_uc021wbl.1_Silent_p.Y404Y|ACSS1_uc002wud.1_Non-coding_Transcript	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 1 (ACSS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	525					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	AMP binding|ATP binding|acetate-CoA ligase activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCTCACCTGGGTAGGCCTTGA	0.552000														20			14		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	107012576	107012576	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr10:107012576C>T	uc001kyi.1	+	22	3376	c.3149C>T	c.(3148-3150)cCt>cTt	p.P1050L	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	1050						integral to membrane	neuropeptide receptor activity			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)		GCCGTGTTTCCTGGTCTCCCC	0.512000														15			27		0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35070292	35070292	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr5:35070292G>A	uc003jjm.3	-	6	1178	c.619C>T	c.(619-621)Cgc>Tgc	p.R207C	PRLR_uc003jjk.1_Missense_Mutation_p.R136C|PRLR_uc003jjg.2_Missense_Mutation_p.R207C|PRLR_uc003jjh.2_Missense_Mutation_p.R207C|PRLR_uc003jji.2_Missense_Mutation_p.R136C|PRLR_uc003jjj.2_Missense_Mutation_p.R207C|PRLR_uc003jjl.4_Missense_Mutation_p.R106C|PRLR_uc021xxl.1_Missense_Mutation_p.R207C|PRLR_uc010iuw.1_Missense_Mutation_p.R136C	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	207	Fibronectin type-III 2.				T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GGTTTGCAGCGAACCTGGACA	0.458000														31			34		0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45725766	45725766	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr20:45725766C>T	uc002xsm.3	+	8	1221	c.847C>T	c.(847-849)Cac>Tac	p.H283Y	EYA2_uc010ghp.3_Missense_Mutation_p.H283Y|EYA2_uc002xsq.3_Missense_Mutation_p.H283Y	NM_005244	NP_005235	O00167	EYA2_HUMAN	Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.	283					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity	p.F282V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				AATTATTTTTCACTCCTTACT	0.413000														97			52		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167163548	167163548	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:167163548G>A	uc010fpl.3	-	2	636	c.295C>T	c.(295-297)Cgt>Tgt	p.R99C	SCN9A_uc002udr.1_5'Flank|SCN9A_uc002uds.1_5'Flank|SCN9A_uc002udt.1_5'Flank	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	99						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GCATTGAAACGGAAGATTGTT	0.313000														14			8		0	0	1	0	0
ACVRL1	94	broad.mit.edu	37	12	52309989	52309989	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:52309989G>A	uc001rzj.3	+	7	1501	c.1218G>A	c.(1216-1218)tgG>tgA	p.W406*	ACVRL1_uc001rzk.3_Nonsense_Mutation_p.W406*|ACVRL1_uc010snm.2_Nonsense_Mutation_p.W232*	NM_000020	NP_001070869	P37023	ACVL1_HUMAN	Homo sapiens activin A receptor type II-like 1 (ACVRL1), transcript variant 1, mRNA.	406	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of DNA replication|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	ATP binding|SMAD binding|activin binding|activin receptor activity, type I|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	TGGTGCTGTGGGAGATTGCCC	0.622000														26			25		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128488617	128488617	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:128488617C>T	uc003vnz.4	+	26	4792	c.4583C>T	c.(4582-4584)cCc>cTc	p.P1528L	FLNC_uc003voa.4_Missense_Mutation_p.P1528L	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1528					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCCTCAAGCCCCTTCAAGATC	0.627000														535			139		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9892322	9892322	+	Splice_Site	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr16:9892322C>T	uc010uym.2	-	12	2479	c.2169_splice	c.e12-1	p.G723_splice	GRIN2A_uc002czo.4_Splice_Site_p.G723_splice|GRIN2A_uc010uyn.2_Splice_Site_p.G566_splice|GRIN2A_uc002czr.4_Splice_Site_p.G723_splice	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	723					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTCCAGCTTCCTGAAATGACA	0.542000														23			15		0	0	1	0	0
VPS33A	65082	broad.mit.edu	37	12	122729244	122729245	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:122729244_122729245GG>AA	uc001ucd.3	-	6	953_954	c.840_841CC>TT	c.(838-843)ctcccc>ctTTcc	p.P281S	VPS33A_uc001ucc.3_Non-coding_Transcript	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN	Homo sapiens vacuolar protein sorting 33 homolog A (S. cerevisiae) (VPS33A), mRNA.	281					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		GCTTCCGTGGGGAGGTCCTTAC	0.495000														80			29		0	0	1	0	0
EZR	7430	broad.mit.edu	37	6	159206477	159206477	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr6:159206477G>A	uc003qrt.4	-	3	546	c.331C>T	c.(331-333)Ctt>Ttt	p.L111F	EZR_uc011efs.2_Missense_Mutation_p.L79F|EZR_uc003qru.4_Missense_Mutation_p.L111F	NM_003379	NP_003370	P15311	EZRI_HUMAN	Homo sapiens ezrin (EZR), transcript variant 1, mRNA.	111	FERM.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TCATCGCTAAGGATTCCTTCC	0.527000			T	ROS1	NSCLC									40			25		0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143095664	143095664	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr6:143095664G>A	uc003qjd.3	-	4	955	c.212C>T	c.(211-213)tCc>tTc	p.S71F		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TTCACTAGGGGAGGCCAGTTT	0.512000														121			66		0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28420578	28420578	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr10:28420578C>T	uc001iua.1	-	7	762	c.358G>A	c.(358-360)Gac>Aac	p.D120N	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.D120N|MPP7_uc009xla.2_Missense_Mutation_p.D120N|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	120	L27 2.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						AACACTGGGTCGTAATTCTTC	0.358000														39			25		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6690654	6690654	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:6690654C>T	uc002mfm.3	-	26	3537	c.3475G>A	c.(3475-3477)Gag>Aag	p.E1159K		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1159					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	p.C1158C(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		ACCTGCTCCTCGCAAATATCT	0.542000														42			20		0	0	1	0	0
C14orf166B	145497	broad.mit.edu	37	14	77294702	77294702	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr14:77294702C>T	uc001xsx.2	+	1	271	c.157C>T	c.(157-159)Ccg>Tcg	p.P53S	C14orf166B_uc010asn.1_5'UTR|C14orf166B_uc001xsw.2_Non-coding_Transcript|C14orf166B_uc010aso.1_Non-coding_Transcript|C14orf166B_uc010tvg.1_Non-coding_Transcript|C14orf166B_uc010tvh.1_5'Flank	NM_194287	NP_919263	Q0VAA2	CN16B_HUMAN	Homo sapiens chromosome 14 open reading frame 166B (C14orf166B), mRNA.	53										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		CGAATCCCCGCCGACTGTTGA	0.512000														66			9		0	0	1	0	0
NPAS1	4861	broad.mit.edu	37	19	47548652	47548652	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:47548652G>A	uc002pfw.3	+	11	1712	c.1516G>A	c.(1516-1518)Gat>Aat	p.D506N	NPAS1_uc002pfy.3_Missense_Mutation_p.D506N|NPAS1_uc010xyj.2_3'UTR	NM_002517	NP_002508	Q99742	NPAS1_HUMAN	Homo sapiens neuronal PAS domain protein 1 (NPAS1), mRNA.	506					central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		CCTGAAGCAGGATCCGGTGCG	0.731000														23			15		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9088132	9088132	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:9088132G>A	uc002mkp.3	-	0	3887	c.3683C>T	c.(3682-3684)tCa>tTa	p.S1228L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1228	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCCTCCAATGATGTGGCTGG	0.507000														179			127		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545679	82545679	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:82545679C>T	uc003uhx.2	-	6	11912	c.11623G>A	c.(11623-11625)Gaa>Aaa	p.E3875K	PCLO_uc003uhv.2_Missense_Mutation_p.E3875K|PCLO_uc010lec.3_Missense_Mutation_p.E840K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3806	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			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						AGTTGAGATTCTGTTTGGGTT	0.478000														436			181		0	0	1	0	0
MCHR2	84539	broad.mit.edu	37	6	100395776	100395776	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr6:100395776C>T	uc003pqh.1	-	2	569	c.254G>A	c.(253-255)gGa>gAa	p.G85E	MCHR2_uc003pqi.1_Missense_Mutation_p.G85E	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	85						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AAAAGGCATTCCAACTATGTG	0.478000														76			45		0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46790149	46790149	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr22:46790149G>A	uc003bhw.1	-	13	5854	c.5854C>T	c.(5854-5856)Ccg>Tcg	p.P1952S	CELSR1_uc011arc.1_Missense_Mutation_p.P273S	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1952	EGF-like 7; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity	p.P1952S(2)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CTGGGGCACGGAAGGTCGAGT	0.562000														35			16		0	0	1	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55286759	55286759	+	Silent	SNP	C	T	T	rs145375570	byFrequency	TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:55286759C>T	uc010erz.1	+	3	551	c.513C>T	c.(511-513)ctC>ctT	p.L171L	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Non-coding_Transcript|KIR2DL1_uc002qhb.1_Silent_p.L171L	NM_014218	NP_055033	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.	171	Ig-like C2-type 2.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		AACGTAGGCTCCCTGCAGGGC	0.587000														106			63		0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702712	27702712	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr10:27702712G>A	uc001itu.2	-	0	586	c.468C>T	c.(466-468)ttC>ttT	p.F156F		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	156					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GTAGGTACAGGAAGCCGGTGC	0.662000														105			75		0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23904401	23904401	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr13:23904401G>A	uc001uon.2	-	9	14203	c.13614C>T	c.(13612-13614)taC>taT	p.Y4538Y	SACS_uc001uoo.2_Silent_p.Y4391Y|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	4538	HEPN.				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GCAAATCAGGGTATCTTGTTT	0.393000														52			35		0	0	1	0	0
CBLN2	147381	broad.mit.edu	37	18	70205504	70205504	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr18:70205504C>T	uc002lku.2	-	3	817	c.582G>A	c.(580-582)agG>agA	p.R194R	CBLN2_uc002lkv.2_Silent_p.R194R	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN	Homo sapiens cerebellin 2 precursor (CBLN2), mRNA.	194	C1q.					integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				CTTTGTCTTCCCTTTCCATGA	0.502000														76			45		0	0	1	0	0
ANAPC4	29945	broad.mit.edu	37	4	25416220	25416220	+	Splice_Site	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr4:25416220G>A	uc003gro.3	+	25	1854	c.1725_splice	c.e25-1	p.L575_splice	ANAPC4_uc003grp.3_Splice_Site_p.L461_splice|ANAPC4_uc003grq.3_Splice_Site_p.L28_splice	NM_013367	NP_037499	Q9UJX5	APC4_HUMAN	Homo sapiens anaphase promoting complex subunit 4 (ANAPC4), mRNA.	575					G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|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|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TTTTTTCTTAGGTGGAATAAT	0.244000														7			5		0	0	1	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68930597	68930597	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr4:68930597C>T	uc003hdt.1	-	7	870	c.821G>A	c.(820-822)cGa>cAa	p.R274Q	LOC550112_uc003hdl.4_Intron|BC041902_uc011cak.2_Intron|SYT14L_uc010ihn.3_5'Flank|SYT14L_uc021xou.1_5'Flank	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	Homo sapiens transmembrane protease, serine 11F (TMPRSS11F), mRNA.	274	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.R274Q(6)|p.K273R(1)|p.R274*(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						CCTCACATTTCGTTTCACTGC	0.343000														13			10		0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43262392	43262392	+	Silent	SNP	G	A	A	rs140758943	byFrequency	TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:43262392G>A	uc002ouo.2	-	2	569	c.471C>T	c.(469-471)aaC>aaT	p.N157N	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Non-coding_Transcript|PSG8_uc002ouh.3_Silent_p.N157N|PSG8_uc010ein.3_Silent_p.N35N|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	157	Ig-like C2-type 1.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CCTCCCTGGGGTTTAATTTGC	0.537000														171			126		0	0	1	0	0
MICB	4277	broad.mit.edu	37	6	31475177	31475177	+	Splice_Site	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr6:31475177G>A	uc003ntn.4	+	5	1009	c.893_splice	c.e5-1	p.G298_splice	MICB_uc011dnm.2_Splice_Site_p.G266_splice|MICB_uc003nto.4_Splice_Site_p.G255_splice	NM_005931	NP_005922	Q29980	MICB_HUMAN	Homo sapiens MHC class I polypeptide-related sequence B (MICB), mRNA.	298	Ig-like C1-type.				antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	MHC class I protein complex|integral to plasma membrane	natural killer cell lectin-like receptor binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						TTTTTTTCAGGGAAGGCGCTG	0.507000														39			22		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179439256	179439256	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:179439256C>T	uc021vsy.1	-	274	64124	c.63899G>A	c.(63898-63900)cGa>cAa	p.R21300Q	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R14995Q|TTN_uc021vta.1_Missense_Mutation_p.R14928Q|TTN_uc021vtb.1_Missense_Mutation_p.R14803Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22227							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R14803Q(1)|p.R21298Q(1)|p.R14928Q(1)|p.R14995Q(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)			AATACCATTTCGTTCTTTTCT	0.418000														102			81		0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35874607	35874607	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr5:35874607C>T	uc003jjs.3	+	5	852	c.763C>T	c.(763-765)Ctg>Ttg	p.L255L	IL7R_uc011coo.2_Intron|IL7R_uc011cop.2_Intron	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	255					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	p.A254_L255>EKV(2)|p.S252_A254>WN(1)|p.V253_A254insVLC(1)|p.V253_A254insGEA(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CTCTGTCGCTCTGTTGGTCAT	0.438000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							78			32		0	0	1	0	0
KLHL4	56062	broad.mit.edu	37	X	86772918	86772918	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chrX:86772918G>A	uc004efa.2	+	0	204	c.22G>A	c.(22-24)Gag>Aag	p.E8K	KLHL4_uc004efb.2_Missense_Mutation_p.E8K	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.	8						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TGGCAAGAAAGAGTTTGATGT	0.453000														1			34		0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167095026	167095026	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:167095026A>G	uc001geb.1	+	4	674	c.658A>G	c.(658-660)Aaa>Gaa	p.K220E		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	220	Tyrosine-protein phosphatase.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CATTTCAGGGAAAGTCCTGGT	0.453000														24			12		0	0	1	0	0
PCBP4	57060	broad.mit.edu	37	3	51992264	51992264	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:51992264G>A	uc003dcc.2	-	9	1809	c.1088C>T	c.(1087-1089)cCc>cTc	p.P363L	PCBP4_uc003dcb.2_Missense_Mutation_p.P308L|PCBP4_uc003dcf.2_Missense_Mutation_p.P342L|PCBP4_uc003dce.2_Silent_p.S343S|PCBP4_uc003dcg.2_Missense_Mutation_p.P308L|PCBP4_uc003dcj.2_Missense_Mutation_p.P342L|PCBP4_uc003dck.2_Missense_Mutation_p.P299L|PCBP4_uc003dch.2_Missense_Mutation_p.P342L|PCBP4_uc003dci.2_Missense_Mutation_p.P182L			P57723	PCBP4_HUMAN	Homo sapiens poly(rC) binding protein 4 (PCBP4), transcript variant 4, mRNA.	342						cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CAGGCCAGGGGGAGCTGTGGG	0.677000														60			36		0	0	1	0	0
CYP2F1	1572	broad.mit.edu	37	19	41622455	41622455	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:41622455G>A	uc002opu.1	+	2	323	c.267G>A	c.(265-267)gtG>gtA	p.V89V	CYP2F1_uc021uuv.1_5'UTR|CYP2F1_uc010xvv.1_Silent_p.V89V|CYP2F1_uc002opv.1_Non-coding_Transcript	NM_000774	NP_000765	P24903	CP2F1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily F, polypeptide 1 (CYP2F1), mRNA.	89					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						AGGCCCTGGTGGACCAGGGAG	0.597000														51			36		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23855197	23855198	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr14:23855197_23855198CC>TT	uc001wjv.3	-	33	5173_5174	c.5102_5103GG>AA	c.(5101-5103)cgg>cAA	p.R1701Q		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1701					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCGCCAGCTTCCGGGACCGCTC	0.634000														40			30		0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94654429	94654429	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:94654429C>T	uc001dqj.4	-	14	2014	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.3_Missense_Mutation_p.E115K	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	549					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GATCTAGATTCGCTGCTCCCT	0.358000														10			34		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10404684	10404684	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:10404684T>A	uc002gmo.3	-	26	3575	c.3481A>T	c.(3481-3483)Acc>Tcc	p.T1161S	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1161						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGGGCTGAGGTGGCCCCACCG	0.637000														95			55		0	0	1	0	0
ANKRD28	23243	broad.mit.edu	37	3	15749516	15749516	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:15749516C>T	uc003caj.1	-	13	1515	c.1372G>A	c.(1372-1374)Gtg>Atg	p.V458M	ANKRD28_uc003cai.1_Missense_Mutation_p.V304M|ANKRD28_uc011avz.1_Missense_Mutation_p.V304M|ANKRD28_uc003cak.1_Non-coding_Transcript|ANKRD28_uc011awa.1_Non-coding_Transcript|ANKRD28_uc003cal.1_Missense_Mutation_p.V488M|ANKRD28_uc003cam.2_Missense_Mutation_p.V491M	NM_015199	NP_001182028	O15084	ANR28_HUMAN	Homo sapiens ankyrin repeat domain 28 (ANKRD28), transcript variant 1, mRNA.	458						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						CCTGATCCCACAAGAGCAAAC	0.468000														10			5		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179597678	179597678	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:179597678C>T	uc021vsy.1	-	51	12718	c.12493G>A	c.(12493-12495)Gaa>Aaa	p.E4165K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E826K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5092							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)			GCTGTGCCTTCCACAAATGCT	0.483000														19			13		0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274081	39274081	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:39274081G>A	uc002hvz.3	-	0	526	c.487C>T	c.(487-489)Cca>Tca	p.P163S		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	163	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CCACAGACTGGACGCAGGcag	0.662000														23			4		0	0	1	0	0
LRIT2	340745	broad.mit.edu	37	10	85982254	85982254	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr10:85982254G>A	uc010qmc.2	-	3	1113	c.1105C>T	c.(1105-1107)Ccc>Tcc	p.P369S	LRIT2_uc001kcy.3_Missense_Mutation_p.P359S	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA.	359	Fibronectin type-III.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						CCCTCCGAGGGGATGGAAAGA	0.552000														9			12		0	0	1	0	0
BTBD16	118663	broad.mit.edu	37	10	124043377	124043377	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr10:124043377C>T	uc001lgc.1	+	3	430	c.179C>T	c.(178-180)tCa>tTa	p.S60L	BTBD16_uc001lgd.1_Missense_Mutation_p.S59L	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN	Homo sapiens BTB (POZ) domain containing 16 (BTBD16), mRNA.	60										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				TTATGCATTTCACAAATCCAG	0.358000														3			19		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117199609	117199609	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:117199609C>T	uc003vjd.3	+	10	1616	c.1484C>T	c.(1483-1485)tCc>tTc	p.S495F	CFTR_uc011knq.2_5'UTR|CFTR_uc003vje.1_Non-coding_Transcript	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	495	ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TCTCAGTTTTCCTGGATTATG	0.383000									Cystic Fibrosis					61			55		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3165842	3165842	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr8:3165842G>A	uc022aqr.1	-	23	4205	c.3815C>T	c.(3814-3816)tCg>tTg	p.S1272L	CSMD1_uc011kwj.2_Missense_Mutation_p.S665L|CSMD1_uc003wqe.3_Missense_Mutation_p.S429L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1273	Sushi 7.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACCTATGCACGAAGGTAGTGG	0.507000														3			7		0	0	1	0	0
C7	730	broad.mit.edu	37	5	40964849	40964849	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr5:40964849G>A	uc003jmh.3	+	13	1870	c.1756G>A	c.(1756-1758)Ggt>Agt	p.G586S	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	586	Sushi 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				TTAGGATGAAGGTACAATGTT	0.348000														30			45		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50850724	50850724	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:50850724C>T	uc021vhh.1	-	4	1783	c.862G>A	c.(862-864)Gga>Aga	p.G288R	NRXN1_uc002rxb.4_5'UTR|NRXN1_uc021vhg.1_Missense_Mutation_p.G321R|NRXN1_uc021vhi.1_Missense_Mutation_p.G317R|NRXN1_uc021vhj.1_Missense_Mutation_p.G284R|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	288	Laminin G-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TATTCAGATCCTTTGAACGTG	0.363000														26			15		0	0	1	0	0
NXF1	10482	broad.mit.edu	37	11	62562413	62562413	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:62562413T>A	uc001nvf.1	-	17	1707	c.1571A>T	c.(1570-1572)aAt>aTt	p.N524I	TMEM223_uc001nve.2_5'Flank|NXF1_uc001nvg.1_3'UTR|NXF1_uc009yog.1_Missense_Mutation_p.N567I	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN	Homo sapiens nuclear RNA export factor 1 (NXF1), transcript variant 1, mRNA.	524	NTF2.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTACCCTGAATTGCTAGCAGG	0.478000														8			13		0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92731309	92731309	+	Missense_Mutation	SNP	C	T	T	rs138600971	byFrequency	TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:92731309C>T	uc003umf.3	-	2	4372	c.4102G>A	c.(4102-4104)Gaa>Aaa	p.E1368K	SAMD9_uc003umg.3_Missense_Mutation_p.E1368K|SAMD9_uc022ahg.1_Missense_Mutation_p.E1368K	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1368						cytoplasm		p.E1368K(2)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AAAGTATATTCGTTCACTATA	0.348000														97			34		0	0	1	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95147387	95147387	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr4:95147387C>T	uc003htb.4	+	2	485	c.308C>T	c.(307-309)tCc>tTc	p.S103F	SMARCAD1_uc003htc.4_Missense_Mutation_p.S103F|SMARCAD1_uc003htd.4_Missense_Mutation_p.S103F|SMARCAD1_uc010ila.3_5'UTR	NM_001128430	NP_001121902	Q9H4L7	SMRCD_HUMAN	Homo sapiens SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 (SMARCAD1), transcript variant 2, mRNA.	103					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		GATGTCGTTTCCCCAAATTGC	0.308000														46			27		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63175164	63175164	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr14:63175164G>A	uc001xfx.3	-	10	2080	c.2029C>T	c.(2029-2031)Cgt>Tgt	p.R677C	KCNH5_uc001xfy.3_Missense_Mutation_p.S611L	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	677					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.R677C(2)|p.R677H(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CTGATCTTACGAAAGATGATC	0.458000														24			27		0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158435861	158435861	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:158435861C>T	uc010pij.2	+	0	510	c.510C>T	c.(508-510)tcC>tcT	p.S170S		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA.	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					CCTTCCACTCCTCCAACCAGC	0.537000														183			72		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55922468	55922468	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr6:55922468C>T	uc003pcs.3	-	29	3093	c.2861G>A	c.(2860-2862)gGa>gAa	p.G954E	COL21A1_uc010jzz.3_Missense_Mutation_p.G339E|COL21A1_uc011dxg.2_Missense_Mutation_p.G327E|COL21A1_uc011dxh.2_Missense_Mutation_p.G305E|COL21A1_uc003pcr.3_Missense_Mutation_p.G311E	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	954					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			ATAGTTTGGTCCTTTTCTGAA	0.473000														13			10		0	0	1	0	0
KRT27	342574	broad.mit.edu	37	17	38938526	38938526	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:38938526C>T	uc002hvg.3	-	0	261	c.220G>A	c.(220-222)Ggg>Agg	p.G74R		NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN	Homo sapiens keratin 27 (KRT27), mRNA.	74	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				TGCTCATTCCCTGTGAAGGCA	0.582000														66			43		0	0	1	0	0
STAC	6769	broad.mit.edu	37	3	36422196	36422196	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:36422196G>A	uc003cgh.1	+	0	100	c.61G>A	c.(61-63)Ggc>Agc	p.G21S	STAC_uc010hgd.1_Non-coding_Transcript|STAC_uc011aya.1_Missense_Mutation_p.G21S	NM_003149	NP_003140	Q99469	STAC_HUMAN	Homo sapiens SH3 and cysteine rich domain (STAC), mRNA.	21					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GGAGGCGGTGGGCGCCGAGCA	0.672000														20			10		0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141359	143141359	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:143141359C>T	uc011ktg.2	+	0	814	c.814C>T	c.(814-816)Cca>Tca	p.P272S	LOC285965_uc003wda.3_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.	272					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					AGGTATTTTTCCACCTCTGGA	0.488000														181			43		0	0	1	0	0
DBX1	120237	broad.mit.edu	37	11	20177966	20177966	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:20177966C>T	uc021qez.1	-	3	943	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K	DBX1_uc021qey.1_Missense_Mutation_p.E276K	NM_001029865	NP_001025036	A6NMT0	DBX1_HUMAN	Homo sapiens developing brain homeobox 1 (DBX1), mRNA.	276					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						TCCTCCTCTTCGTTCCCAGGG	0.726000														22			19		0	0	1	0	0
CPT1A	1374	broad.mit.edu	37	11	68548117	68548117	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:68548117G>A	uc001oog.4	-	11	1619	c.1449C>T	c.(1447-1449)caC>caT	p.H483H	CPT1A_uc001oof.4_Silent_p.H483H	NM_001876	NP_001867	P50416	CPT1A_HUMAN	Homo sapiens carnitine palmitoyltransferase 1A (liver) (CPT1A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	483					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	CCTCCCAAAGGTGGGCCACGA	0.517000														9			10		0	0	1	0	0
LOXL2	4017	broad.mit.edu	37	8	23190949	23190949	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr8:23190949C>T	uc003xdh.1	-	4	1270	c.931G>A	c.(931-933)Gga>Aga	p.G311R	LOC100507156_uc003xdj.3_5'Flank	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA.	311					aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CTTGAGGGTCCGTCAGGGCTG	0.627000														90			36		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	167760291	167760291	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:167760291C>T	uc002udx.3	+	1	388	c.299C>T	c.(298-300)tCc>tTc	p.S100F	XIRP2_uc010fpn.3_Missense_Mutation_p.S100F|XIRP2_uc010fpo.3_Missense_Mutation_p.S100F	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	0					actin cytoskeleton organization	cell junction	actin binding			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						AAGGAGGATTCCCTGAGCAGT	0.517000														39			24		0	0	1	0	0
CYP3A7	1551	broad.mit.edu	37	7	99328745	99328745	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:99328745C>T	uc003uru.3	-	1	205	c.102G>A	c.(100-102)aaG>aaA	p.K34K	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron	NM_000765	NP_000756	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 7 (CYP3A7), mRNA.	34					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.F33V(1)		autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					TTCCAAGCTTCTTAAAAAGTC	0.428000														49			22		0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	20869142	20869142	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:20869142G>A	uc009yid.3	+	4	586	c.433G>A	c.(433-435)Gag>Aag	p.E145K	NELL1_uc010rdp.2_Intron|NELL1_uc001mqe.3_Missense_Mutation_p.E117K|NELL1_uc001mqf.3_Missense_Mutation_p.E117K|NELL1_uc010rdo.2_Intron	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	117	TSP N-terminal.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TTTTGAACTGGAGAGCAGTGG	0.448000														27			19		0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128388776	128388776	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr6:128388776G>A	uc003qbk.3	-	11	2412	c.2045C>T	c.(2044-2046)cCt>cTt	p.P682L	PTPRK_uc010kfc.3_Missense_Mutation_p.P682L|PTPRK_uc003qbj.3_Missense_Mutation_p.P682L|PTPRK_uc011ebu.2_Missense_Mutation_p.P682L|PTPRK_uc003qbl.1_Missense_Mutation_p.P552L|PTPRK_uc011ebv.1_Missense_Mutation_p.P682L	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	682					cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GAACGGGGCAGGCTCAGGTAG	0.537000														49			28		0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56243954	56243954	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:56243954G>A	uc002qly.3	-	1	1271	c.1243C>T	c.(1243-1245)Ctc>Ttc	p.L415F		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	415	NACHT.					cytoplasm	ATP binding	p.L415H(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)		TTCCTCCGGAGATCCCCATGG	0.488000														67			68		0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48896993	48896993	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:48896993G>A	uc002rwp.2	+	8	3337	c.3223G>A	c.(3223-3225)Gaa>Aaa	p.E1075K	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.E1075K|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.E1028K|STON1-GTF2A1L_uc002rws.2_Missense_Mutation_p.E371K|STON1-GTF2A1L_uc010yom.2_Missense_Mutation_p.E337K	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	1028					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGATGAGAATGAATTTCTAGG	0.383000														52			25		0	0	1	0	0
CD248	57124	broad.mit.edu	37	11	66084330	66084330	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:66084330C>T	uc001ohm.1	-	0	186	c.169G>A	c.(169-171)Gac>Aac	p.D57N		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	Homo sapiens CD248 molecule, endosialin (CD248), mRNA.	57	C-type lectin.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	GTGGCCAGGTCGCCCCCCAGC	0.756000														8			7		0	0	1	0	0
DKK2	27123	broad.mit.edu	37	4	107845215	107845215	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr4:107845215C>T	uc003hyi.3	-	3	1381	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	DKK2_uc003hyj.1_3'UTR	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA.	226	DKK-type Cys-2.				Wnt receptor signaling pathway|multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		TGGAAAATTTCCAGCCCATGA	0.493000														93			54		0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183454550	183454550	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:183454550C>T	uc003fly.2	+	7	1052	c.857C>T	c.(856-858)cCc>cTc	p.P286L		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	286	YEATS.				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	p.P286P(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GGTGAGTTTCCCGTCAGAGTT	0.418000														47			31		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144991234	144991234	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr8:144991234G>A	uc003zaf.1	-	31	13336	c.13166C>T	c.(13165-13167)tCc>tTc	p.S4389F	PLEC_uc003zab.1_Missense_Mutation_p.S4252F|PLEC_uc003zac.1_Missense_Mutation_p.S4256F|PLEC_uc003zad.2_Missense_Mutation_p.S4252F|PLEC_uc003zae.1_Missense_Mutation_p.S4220F|PLEC_uc003zag.1_Missense_Mutation_p.S4230F|PLEC_uc003zah.2_Missense_Mutation_p.S4238F|PLEC_uc003zaj.2_Missense_Mutation_p.S4279F	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	4389	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGAGGAGGAGGATCCCACCGA	0.687000														71			44		0	0	1	0	0
RUFY4	285180	broad.mit.edu	37	2	218940293	218940293	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:218940293G>A	uc010fvl.2	+	8	1596	c.1078G>A	c.(1078-1080)Ggg>Agg	p.G360R	RUFY4_uc002vgw.3_Missense_Mutation_p.G187R	NM_198483	NP_940885	Q6ZNE9	RUFY4_HUMAN	Homo sapiens RUN and FYVE domain containing 4 (RUFY4), transcript variant 1, mRNA.	360							metal ion binding	p.W359C(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGCAGTATCAGGGAGCAGGCA	0.597000														16			15		0	0	1	0	0
CPNE5	57699	broad.mit.edu	37	6	36742796	36742796	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr6:36742796G>A	uc003omr.1	-	9	746	c.679C>T	c.(679-681)Cca>Tca	p.P227S	CPNE5_uc003oms.1_Missense_Mutation_p.P206S	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	Homo sapiens copine V (CPNE5), mRNA.	227	C2 2.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TGCCAGACTGGATTTAGGGTG	0.512000														20			12		0	0	1	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113652476	113652476	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:113652476C>T	uc003eaq.4	+	11	1404	c.1328C>T	c.(1327-1329)tCt>tTt	p.S443F	GRAMD1C_uc011bil.2_Non-coding_Transcript|GRAMD1C_uc011bim.1_Non-coding_Transcript|GRAMD1C_uc003ear.3_Missense_Mutation_p.S276F|GRAMD1C_uc003eas.3_Missense_Mutation_p.S238F|GRAMD1C_uc003eat.3_Missense_Mutation_p.S102F	NM_017577	NP_001165576	Q8IYS0	GRM1C_HUMAN	Homo sapiens GRAM domain containing 1C (GRAMD1C), transcript variant 1, mRNA.	443						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						ATCATCCGATCTTCAAAACAG	0.393000														51			26		0	0	1	0	0
ADAP2	55803	broad.mit.edu	37	17	29272071	29272071	+	Splice_Site	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:29272071G>A	uc010csk.3	+	6	954	c.675_splice	c.e6+1	p.K225_splice	ADAP2_uc002hfy.3_Splice_Site_p.K219_splice|ADAP2_uc010csl.3_Splice_Site|ADAP2_uc002hfx.3_Splice_Site_p.K219_splice	NM_018404	NP_060874	Q9NPF8	ADAP2_HUMAN	Homo sapiens ArfGAP with dual PH domains 2 (ADAP2), mRNA.	219	PH 1.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						AAAGTGGGAAGGTGAGATGCC	0.592000														28			9		0	0	1	0	0
OR2D3	120775	broad.mit.edu	37	11	6943159	6943159	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:6943159G>A	uc010rav.2	+	0	927	c.927G>A	c.(925-927)agG>agA	p.R309R		NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 3 (OR2D3), mRNA.	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L308W(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATAGCTTGAGGAACAAAGATG	0.423000														50			44		0	0	1	0	0
NCOA5	57727	broad.mit.edu	37	20	44691322	44691322	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr20:44691322G>A	uc002xrd.3	-	6	1885	c.1357C>T	c.(1357-1359)Ccc>Tcc	p.P453S	NCOA5_uc002xrc.3_3'UTR|NCOA5_uc002xre.3_Missense_Mutation_p.P453S	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	Homo sapiens nuclear receptor coactivator 5 (NCOA5), mRNA.	453					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	ATP binding|aminoacyl-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				GCAACCGAGGGGGATGCAGAG	0.552000														103			77		0	0	1	0	0
ANKRD44	91526	broad.mit.edu	37	2	197872649	197872649	+	Splice_Site	SNP	T	C	C			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:197872649T>C	uc021vuj.1	-	20	2206	c.2013_splice	c.e20-1	p.Q671_splice	ANKRD44_uc002utz.4_Splice_Site_p.Q378_splice|ANKRD44_uc021vuk.1_Splice_Site_p.Q646_splice	NM_001195144	NP_001182073	Q8N8A2	ANR44_HUMAN	Homo sapiens ankyrin repeat domain 44 (ANKRD44), transcript variant A, mRNA.	671							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														41			29		0	0	1	0	0
IL36A	27179	broad.mit.edu	37	2	113763452	113763452	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:113763452G>A	uc010yxr.2	+	0	4	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K		NM_014440	NP_055255	Q9UHA7	IL36A_HUMAN	Homo sapiens interleukin 36, alpha (IL36A), mRNA.	2					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						CACCACAATGGAAAAAGGTAA	0.443000														35			23		0	0	1	0	0
RASGRP2	10235	broad.mit.edu	37	11	64508458	64508458	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:64508458C>T	uc009ypu.3	-	4	560	c.333G>A	c.(331-333)ggG>ggA	p.G111G	RASGRP2_uc001oat.3_5'Flank|RASGRP2_uc001oau.3_5'UTR|RASGRP2_uc009ypv.3_Silent_p.G111G|RASGRP2_uc009ypw.3_Silent_p.G111G	NM_001098671	NP_722541	Q7LDG7	GRP2_HUMAN	Homo sapiens RAS guanyl releasing protein 2 (calcium and DAG-regulated) (RASGRP2), transcript variant 4, mRNA.	111	N-terminal Ras-GEF.				Ras protein signal transduction|platelet activation|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCCGTCGGTTCCCTTCTTGGT	0.577000											OREG0004006	type=REGULATORY REGION|Gene=RASGRP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		12			27		0	0	1	0	0
ST7L	54879	broad.mit.edu	37	1	113153507	113153507	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:113153507G>A	uc001ecd.3	-	2	712	c.407C>T	c.(406-408)cCt>cTt	p.P136L	ST7L_uc009wgh.3_Non-coding_Transcript|ST7L_uc001ecc.3_5'UTR|ST7L_uc010owg.2_Missense_Mutation_p.P136L|ST7L_uc010owh.2_Missense_Mutation_p.P136L|ST7L_uc001ecf.3_Missense_Mutation_p.P119L|ST7L_uc001ece.3_Missense_Mutation_p.P136L|ST7L_uc001ecg.3_Non-coding_Transcript|ST7L_uc010owi.2_Missense_Mutation_p.P71L|ST7L_uc001ech.3_Missense_Mutation_p.P119L|ST7L_uc001eci.3_Missense_Mutation_p.P136L|ST7L_uc009wgi.1_Non-coding_Transcript|ST7L_uc010owj.1_Missense_Mutation_p.P119L	NM_017744	NP_060214	Q8TDW4	ST7L_HUMAN	Homo sapiens suppression of tumorigenicity 7 like (ST7L), transcript variant 1, mRNA.	136					negative regulation of cell growth	integral to membrane	binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTCCTCGAAGGAGAACCTGG	0.413000														18			33		0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162307335	162307336	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr4:162307335_162307336CC>TT	uc003iqh.3	-	15	2543_2544	c.2107_2108GG>AA	c.(2107-2109)ggc>AAc	p.G703N	FSTL5_uc003iqi.3_Missense_Mutation_p.G702N|FSTL5_uc010iqv.3_Missense_Mutation_p.G693N	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	703						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AAGGTAGTGGCCATCTGGAGAG	0.455000														45			34		0	0	1	0	0
HEATR6	63897	broad.mit.edu	37	17	58134512	58134512	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:58134512G>A	uc002iyk.1	-	11	1993	c.1976C>T	c.(1975-1977)tCc>tTc	p.S659F	HEATR6_uc010ddk.1_Missense_Mutation_p.S198F|HEATR6_uc010wos.1_Missense_Mutation_p.S491F	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	Homo sapiens HEAT repeat containing 6 (HEATR6), mRNA.	659							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TACGACAATGGAAATGCAGAG	0.557000														168			48		0	0	1	0	0
PLXDC2	84898	broad.mit.edu	37	10	20290791	20290791	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr10:20290791G>A	uc001iqg.1	+	1	837	c.200G>A	c.(199-201)aGa>aAa	p.R67K	PLXDC2_uc001iqh.1_Missense_Mutation_p.R67K	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	67						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						AGGTGGAAAAGAAACTTGGAC	0.527000														34			22		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29608061	29608061	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr13:29608061C>T	uc001usl.4	+	1	2333	c.2275C>T	c.(2275-2277)Ccc>Tcc	p.P759S		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	749	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TTGTTCTCCTCCCTATGCTCA	0.433000														19			12		0	0	1	0	0
RASAL1	8437	broad.mit.edu	37	12	113544915	113544915	+	Silent	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:113544915C>T	uc001tun.2	-	15	1948	c.1647G>A	c.(1645-1647)gtG>gtA	p.V549V	RASAL1_uc010syp.2_Silent_p.V548V|RASAL1_uc001tul.3_Silent_p.V548V|RASAL1_uc001tum.2_Silent_p.V548V|RASAL1_uc010syq.2_Silent_p.V548V|RASAL1_uc001tuo.4_Silent_p.V548V|RASAL1_uc010syr.2_3'UTR	NM_001193520	NP_001180449	O95294	RASL1_HUMAN	Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.	548					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding|phospholipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CATCCCCATCCACATCCACCA	0.612000														68			35		0	0	1	0	0
PRIMA1	145270	broad.mit.edu	37	14	94187818	94187818	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr14:94187818C>T	uc001ybw.1	-	4	476	c.434G>A	c.(433-435)gGa>gAa	p.G145E	PRIMA1_uc001ybx.1_Non-coding_Transcript	NM_178013	NP_821092	Q86XR5	PRIMA_HUMAN	Homo sapiens proline rich membrane anchor 1 (PRIMA1), mRNA.	145					neurotransmitter catabolic process	cell junction|integral to membrane|synapse				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		CACGTCTACTCCTTTGTTGCT	0.572000														28			9		0	0	1	0	0
ACTL6B	51412	broad.mit.edu	37	7	100246254	100246254	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:100246254G>A	uc003uvy.3	-	6	701	c.594C>T	c.(592-594)ttC>ttT	p.F198F	ACTL6B_uc003uvz.3_Non-coding_Transcript	NM_016188	NP_057272	O94805	ACL6B_HUMAN	Homo sapiens actin-like 6B (ACTL6B), mRNA.	198					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	SWI/SNF complex|nBAF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GCATGGAGATGAAGTCCCCTG	0.612000														25			23		0	0	1	0	0
NPPB	4879	broad.mit.edu	37	1	11918291	11918291	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:11918291G>A	uc001atj.3	-	1	470	c.368C>T	c.(367-369)tCc>tTc	p.S123F		NM_002521	NP_002512	P16860	ANFB_HUMAN	Homo sapiens natriuretic peptide B (NPPB), mRNA.	123					body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation	extracellular space	diuretic hormone activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624)	CAGGCCACTGGAGGAGCTGAT	0.602000														6			17		0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97821683	97821683	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:97821683T>G	uc003upd.2	+	10	2199	c.1906T>G	c.(1906-1908)Ttt>Gtt	p.F636V		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	636					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CAACAATATATTTAATGATGT	0.438000														52			69		0	0	1	0	0
OSBPL7	114881	broad.mit.edu	37	17	45890658	45890658	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:45890658G>A	uc002ilx.1	-	15	1914	c.1711C>T	c.(1711-1713)Cga>Tga	p.R571*	OSBPL7_uc002ilw.1_Nonsense_Mutation_p.R133*	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN	Homo sapiens oxysterol binding protein-like 7 (OSBPL7), transcript variant 1, mRNA.	571					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						CGGAAGCCTCGGTCAGGCCGC	0.622000														71			26		0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745770	77745770	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:77745770G>A	uc002snr.3	-	2	1640	c.1225C>T	c.(1225-1227)Cag>Tag	p.Q409*	LRRTM4_uc002snq.3_Nonsense_Mutation_p.Q409*|LRRTM4_uc002sns.2_Nonsense_Mutation_p.Q409*|LRRTM4_uc002snt.2_Nonsense_Mutation_p.Q410*	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 4 (LRRTM4), transcript variant 1, mRNA.	409						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CCAGGAATCTGAAACCCTGGG	0.488000														35			17		0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77317555	77317555	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr4:77317555G>A	uc003hkb.4	-	2	308	c.155C>T	c.(154-156)cCt>cTt	p.P52L	CCDC158_uc003hkd.3_Missense_Mutation_p.P52L	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	52										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						AGGGAAAAAAGGAACCTGTGT	0.343000														35			16		0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25356008	25356008	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr13:25356008G>A	uc001upr.3	+	5	578	c.537G>A	c.(535-537)acG>acA	p.T179T	RNF17_uc010tdd.1_Silent_p.T38T|RNF17_uc010tde.2_Silent_p.T179T|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Silent_p.T118T|RNF17_uc001upq.1_Silent_p.T179T	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	179					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	p.Q178K(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AGAAGCAAACGATAGAGGAAA	0.313000														28			19		0	0	1	0	0
HNF1A	6927	broad.mit.edu	37	12	121426771	121426771	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:121426771G>A	uc001tzg.3	+	1	485	c.462G>A	c.(460-462)atG>atA	p.M154I	HNF1A_uc021rex.1_Intron|HNF1A_uc021rey.1_Intron|HNF1A_uc021rez.1_Intron|HNF1A_uc001tze.2_Missense_Mutation_p.M154I|HNF1A_uc001tzf.3_Missense_Mutation_p.M154I|HNF1A_uc010szn.2_Missense_Mutation_p.M154I|HNF1A_uc021rfa.1_Missense_Mutation_p.M154I|HNF1A_uc021rfb.1_Intron|HNF1A_uc021rfc.1_Non-coding_Transcript	NM_000545	NP_000536	P20823	HNF1A_HUMAN	Homo sapiens HNF1 homeobox A (HNF1A), mRNA.	154					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.M154T(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCACTCCCATGAAGACGCAGA	0.617000									Hepatic Adenoma, Familial Clustering of					47			20		0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27008287	27008287	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:27008287C>T	uc010crt.3	+	12	1555	c.1363C>T	c.(1363-1365)Caa>Taa	p.Q455*	SUPT6H_uc002hby.3_Nonsense_Mutation_p.Q455*	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	455					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CAAGGATGTCCAATCAATGGA	0.438000														39			24		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77765556	77765556	+	Silent	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr8:77765556G>A	uc003yau.2	+	9	6786	c.6399G>A	c.(6397-6399)cgG>cgA	p.R2133R	ZFHX4_uc003yaw.1_Silent_p.R2088R	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2088						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AACGCCCACGGACAAGAATTA	0.443000										HNSCC(33;0.089)				16			13		0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27147841	27147842	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:27147841_27147842CC>TT	uc002rhu.4	+	2	506_507	c.348_349CC>TT	c.(346-351)tgccga>tgTTga	p.R117*	DPYSL5_uc002rhv.4_Nonsense_Mutation_p.R117*|DPYSL5_uc021vev.1_Nonsense_Mutation_p.R117*	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.	117					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGAGAAGTGCCGAGGTCTGGC	0.614000														20			10		0	0	1	0	0
KPNA3	3839	broad.mit.edu	37	13	50280404	50280404	+	Splice_Site	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr13:50280404C>T	uc001vdj.2	-	13	1552	c.1137_splice	c.e13+1	p.K379_splice		NM_002267	NP_002258	O00505	IMA3_HUMAN	Homo sapiens karyopherin alpha 3 (importin alpha 4) (KPNA3), mRNA.	379	NLS binding site (minor) (By similarity).				NLS-bearing substrate import into nucleus|interspecies interaction between organisms|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		TATGACCAACCTTAGCAAGCT	0.373000														35			16		0	0	1	0	0
HHATL	57467	broad.mit.edu	37	3	42740244	42740244	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:42740244C>T	uc003clw.3	-	5	586	c.439G>A	c.(439-441)Gcc>Acc	p.A147T	HHATL_uc003clx.3_Missense_Mutation_p.A147T	NM_020707	NP_065758	Q9HCP6	HHATL_HUMAN	Homo sapiens hedgehog acyltransferase-like (HHATL), transcript variant 1, mRNA.	147					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		GCCAGGCTGGCCAAGCCAAGG	0.582000														89			48		0	0	1	0	0
GNAT2	2780	broad.mit.edu	37	1	110152690	110152690	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:110152690C>G	uc001dya.3	-	2	488	c.275G>C	c.(274-276)gGc>gCc	p.G92A		NM_005272	NP_005263	P19087	GNAT2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 (GNAT2), mRNA.	92					G-protein signaling, coupled to cAMP nucleotide second messenger|detection of chemical stimulus involved in sensory perception of bitter taste|rhodopsin mediated phototransduction	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		ATAATCGATGCCCAGTGTGGT	0.478000														90			30		0	0	1	0	0
HSP90B3P	343477	broad.mit.edu	37	1	92109053	92109054	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:92109053_92109054GG>AA	uc010osx.2	+	2	1080_1081	c.1080_1081GG>AA	c.(1078-1083)aaggag>aaAAag	p.E361K						Homo sapiens heat shock protein 90kDa beta (Grp94), member 3, pseudogene (HSP90B3P), non-coding RNA.																		AGAAAACTAAGGAGAGTCATGA	0.411000														5			6		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9560905	9560905	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr20:9560905G>A	uc002wnl.2	-	4	1422	c.877C>T	c.(877-879)Cag>Tag	p.Q293*	PAK7_uc002wnk.2_Nonsense_Mutation_p.Q293*|PAK7_uc002wnj.2_Nonsense_Mutation_p.Q293*|PAK7_uc010gby.1_Nonsense_Mutation_p.Q293*	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	293	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)			ATCGGTTCCTGGAGTCCCGAG	0.552000														98			46		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152349000	152349001	+	Frame_Shift_Del	DEL	AT	-	-			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:152349000_152349001delAT	uc021vrb.1	-	142	19234_19235	c.19205_19206delAT	c.(19204-19206)tatfs	p.Y6402fs	NEB_uc002txr.3_Frame_Shift_Del_p.Y2775fs|NEB_uc002txu.3_Frame_Shift_Del_p.Y8258fs|NEB_uc021vrc.1_Frame_Shift_Del_p.Y8258fs|NEB_uc010fnx.3_Frame_Shift_Del_p.Y6390fs|NEB_uc021vrd.1_Frame_Shift_Del_p.Y6402fs|RIF1_uc002txp.3_Intron|NEB_uc010zbz.2_Frame_Shift_Del_p.Y171fs|NEB_uc002txq.3_Frame_Shift_Del_p.Y281fs|NEB_uc010zca.2_Frame_Shift_Del_p.Y233fs|NEB_uc010zcb.2_Frame_Shift_Del_p.Y171fs	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	6402					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AACTATCAGAATAAAGAACCTG	0.490													---	38	---	---	20	---					
FNBP4	23360	broad.mit.edu	37	11	47788664	47788669	+	In_Frame_Del	DEL	GGTGGT	-	-	rs59413596		TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:47788664_47788669delGGTGGT	uc009ylv.3	-	0	325_330	c.172_177delACCACC	c.(172-177)accaccdel	p.TT58del	FNBP4_uc001ngj.3_5'UTR|FNBP4_uc001ngl.2_Non-coding_Transcript	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	Homo sapiens formin binding protein 4 (FNBP4), mRNA.	58								p.T58_T59delTT(6)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CAGTCACCGCGGTGGTGGTGGTCGTC	0.748													---	6	---	---	3	---					
RCBTB1	55213	broad.mit.edu	37	13	50134104	50134104	+	Frame_Shift_Del	DEL	C	-	-			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr13:50134104delC	uc001vde.1	-	4	655	c.394delG	c.(394-396)gaafs	p.E132fs		NM_018191	NP_060661	Q8NDN9	RCBT1_HUMAN	Homo sapiens regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 (RCBTB1), mRNA.	132					cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		CAAGCTACTTCCACCACTTGC	0.453													---	125	---	---	69	---					
YY1	7528	broad.mit.edu	37	14	100741052	100741052	+	Frame_Shift_Del	DEL	T	-	-			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr14:100741052delT	uc001ygy.1	+	2	1340	c.860delT	c.(859-861)attfs	p.I287fs		NM_003403	NP_003394	P25490	TYY1_HUMAN	Homo sapiens YY1 transcription factor (YY1), mRNA.	287	Involved in nuclear matrix association.				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				CCAAGAAAAATTAAAGAAGAT	0.358													---	22	---	---	11	---					
CBFA2T2	9139	broad.mit.edu	37	20	32207397	32207397	+	Frame_Shift_Del	DEL	G	-	-			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr20:32207397delG	uc002wzg.1	+	4	1059	c.522delG	c.(520-522)gtgfs	p.V174fs	CBFA2T2_uc010zug.1_5'UTR|CBFA2T2_uc002wze.1_Frame_Shift_Del_p.V165fs|CBFA2T2_uc021wbz.1_Frame_Shift_Del_p.V145fs|CBFA2T2_uc002wzf.1_Non-coding_Transcript|CBFA2T2_uc002wzh.1_Frame_Shift_Del_p.V145fs|CBFA2T2_uc002wzi.1_Non-coding_Transcript|CBFA2T2_uc002wzj.1_Non-coding_Transcript	NM_005093	NP_001034798	O43439	MTG8R_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 2 (CBFA2T2), transcript variant 2, mRNA.	174	TAFH.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						GTCCTTTTGTGATTCCATTTC	0.343													---	30	---	---	22	---					
BC071797	0	broad.mit.edu	37	21	9769171	9769172	+	RNA	INS	-	TT	TT			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr21:9769171_9769172insTT	uc011abu.2	+	9		c.1146_1147insTT								Homo sapiens, clone IMAGE:4720764, mRNA.																		GAAATTGAATCATCAGTCTAGA	0.381													---	3	---	---	3	---