Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
FCRLA	84824	broad.mit.edu	37	1	161683034	161683034	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr1:161683034C>A	uc001gbe.3	+	5	1255	c.1013C>A	c.(1012-1014)cCt>cAt	p.P338H	FCRLA_uc001gbg.3_Missense_Mutation_p.P192H|FCRLA_uc009wup.3_Missense_Mutation_p.P148H|FCRLA_uc009wuq.3_Missense_Mutation_p.P97H|FCRLA_uc001gbd.3_Missense_Mutation_p.P332H|FCRLA_uc001gbf.3_Missense_Mutation_p.P243H|FCRLA_uc009wuo.3_Missense_Mutation_p.P198H	NM_001184866	NP_001171795	Q7L513	FCRLA_HUMAN	Homo sapiens Fc receptor-like A (FCRLA), transcript variant 1, mRNA.	315					cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			ATGCCAGATCCTCATCTGTAT	0.572000													3	53					0	0	1	0	0
GPR128	84873	broad.mit.edu	37	3	100368589	100368589	+	Silent	SNP	C	C	T			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr3:100368589C>T	uc003duc.3	+	10	1585	c.1317C>T	c.(1315-1317)aaC>aaT	p.N439N	GPR128_uc011bhc.2_Silent_p.N140N	NM_032787	NP_116176	Q96K78	GP128_HUMAN	Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA.	439					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TATTATCCAACGTTGGATGTG	0.373000													5	110					0	0	1	0	0
AGPAT3	56894	broad.mit.edu	37	21	45379682	45379682	+	Silent	SNP	G	G	A			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr21:45379682G>A	uc002zdx.3	+	3	1046	c.381G>A	c.(379-381)ccG>ccA	p.P127P	AGPAT3_uc002zdv.3_Silent_p.P40P|AGPAT3_uc002zdw.3_Silent_p.P40P|AGPAT3_uc002zdy.3_5'UTR	NM_020132	NP_064517	Q9NRZ7	PLCC_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 3 (AGPAT3), transcript variant 1, mRNA.	40					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		CGCTCTGGCCGGTCAGCAAGC	0.647000													4	59					0	0	1	0	0
CCDC132	55610	broad.mit.edu	37	7	92883177	92883177	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr7:92883177T>G	uc003umo.3	+	3	358	c.230T>G	c.(229-231)cTt>cGt	p.L77R	CCDC132_uc003ump.3_Missense_Mutation_p.L47R|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Intron|CCDC132_uc003umn.3_Missense_Mutation_p.L77R	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA.	77										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CTGTAGAAGCTTCCACCTGTT	0.338000													10	12					0	0	1	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101775573	101775573	+	Silent	SNP	A	A	G			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr11:101775573A>G	uc001pgl.3	-	4	1007	c.411T>C	c.(409-411)ccT>ccC	p.P137P		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	Homo sapiens angiopoietin-like 5 (ANGPTL5), mRNA.	137					signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		TGTGAGGAAAAGGATCCAGCT	0.358000													3	72					0	0	1	0	0
SNCG	6623	broad.mit.edu	37	10	88718535	88718535	+	Silent	SNP	G	G	A			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr10:88718535G>A	uc001keb.2	+	0	248	c.81G>A	c.(79-81)acG>acA	p.T27T	MMRN2_uc001kea.3_5'Flank|MMRN2_uc010qmn.2_5'Flank|MMRN2_uc009xtb.2_5'Flank	NM_003087	NP_003078	O76070	SYUG_HUMAN	Homo sapiens synuclein, gamma (breast cancer-specific protein 1) (SNCG), mRNA.	27	4 X 11 AA tandem repeats of [EGSA]-K-T-K- [EQ]-[GQ]-V-X(4).					microtubule organizing center|perinuclear region of cytoplasm|spindle	protein binding			endometrium(1)|skin(1)	2						AGGGGGTGACGGAAGCAGCTG	0.597000													3	69					0	0	1	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	86162	86162	+	RNA	SNP	T	T	C			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chrGL000211.1:86162T>C	uc003bnz.1	+	5		c.910T>C			FLJ43315_uc003boa.3_Non-coding_Transcript					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		TTGAGAATGTTAATGGATACA	0.443000													2	12					0	0	1	0	0
STK19	8859	broad.mit.edu	37	6	31946702	31946702	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr6:31946702A>G	uc003nyv.3	+	3	718	c.590A>G	c.(589-591)gAg>gGg	p.E197G	STK19_uc003nyt.3_Missense_Mutation_p.E154G|STK19_uc011dox.1_Missense_Mutation_p.E154G|STK19_uc003nyw.3_Missense_Mutation_p.E197G|STK19_uc010jtn.1_Non-coding_Transcript	NM_032454	NP_115830	P49842	STK19_HUMAN	Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA.	197				QGE -> GQR (in Ref. 6; AAA99716).		nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						GAGCAGGGGGAGATCAGAATC	0.532000													3	66					0	0	1	0	0
TPST2	8459	broad.mit.edu	37	22	26937482	26937482	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr22:26937482G>C	uc003acw.3	-	2	456	c.115C>G	c.(115-117)Cgg>Ggg	p.R39G	TPST2_uc003acx.3_Missense_Mutation_p.R39G|TPST2_uc011akf.1_Missense_Mutation_p.R39G	NM_001008566	NP_003586	O60704	TPST2_HUMAN	Homo sapiens tyrosylprotein sulfotransferase 2 (TPST2), transcript variant 1, mRNA.	39					peptidyl-tyrosine sulfation	Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)|large_intestine(1)|lung(5)	7						CGGGGGCTCCGCAGGCCCGCC	0.701000													3	41					0	0	1	0	0
ZNF19	7567	broad.mit.edu	37	16	71509559	71509559	+	Silent	SNP	T	T	C			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr16:71509559T>C	uc010cgc.1	-	5	1397	c.891A>G	c.(889-891)ggA>ggG	p.G297G	ZNF23_uc002fai.3_Intron|ZNF19_uc002fak.1_Silent_p.G285G|ZNF19_uc002fal.1_Silent_p.G285G|ZNF19_uc002fam.1_Silent_p.G297G	NM_006961	NP_008892	P17023	ZNF19_HUMAN	Homo sapiens zinc finger protein 19 (ZNF19), mRNA.	297						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		AGGGTTTCTCTCCAGTGTGGA	0.448000													3	75					0	0	1	0	0
LHX1	3975	broad.mit.edu	37	17	35297661	35297661	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr17:35297661A>T	uc002hnh.2	+	1	968	c.245A>T	c.(244-246)aAa>aTa	p.K82I	LHX1_uc010cux.1_5'UTR	NM_005568	NP_005559	P48742	LHX1_HUMAN	Homo sapiens LIM homeobox 1 (LHX1), mRNA.	82	LIM zinc-binding 2.				S-shaped body morphogenesis|cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				GCGCGGAGCAAAGTGTTTCAC	0.587000													3	21					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150922048	150922048	+	Silent	SNP	G	G	A			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr5:150922048G>A	uc003lue.4	-	8	8653	c.8640C>T	c.(8638-8640)caC>caT	p.H2880H		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	2880	Cadherin 25.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGTCTGTCCGTGGTCATAGG	0.493000													4	144					0	0	1	0	0
C17orf81	23587	broad.mit.edu	37	17	7155834	7155834	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr17:7155834G>C	uc002gfg.1	+	1	120	c.13G>C	c.(13-15)Gag>Cag	p.E5Q	CTDNEP1_uc002gfd.2_5'Flank|CTDNEP1_uc002gfe.2_5'Flank|C17orf81_uc010cmb.3_Missense_Mutation_p.E5Q|C17orf81_uc002gfh.1_Missense_Mutation_p.E5Q|C17orf81_uc002gfi.1_Missense_Mutation_p.E5Q|C17orf81_uc002gfj.3_Missense_Mutation_p.E5Q|C17orf81_uc002gfk.1_Missense_Mutation_p.E5Q|C17orf81_uc021toz.1_5'Flank	NM_203415	NP_981960	Q8TE02	DERP6_HUMAN	Homo sapiens chromosome 17 open reading frame 81 (C17orf81), transcript variant 4, mRNA.	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			breast(2)|endometrium(2)|lung(9)|urinary_tract(1)	14						GACGCCATCAGAGGGCGCCAG	0.627000													3	31					0	0	1	0	0
ZNF702P	79986	broad.mit.edu	37	19	53472914	53472914	+	RNA	SNP	A	A	G			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr19:53472914A>G	uc002qan.4	-	3		c.1587T>C								Homo sapiens zinc finger protein 702, pseudogene (ZNF702P), non-coding RNA.																		TTTGATTTTCAATTAAAAACC	0.338000													4	27					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114277273	114277273	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr4:114277273C>T	uc003ibe.4	+	37	7599	c.7499C>T	c.(7498-7500)aCg>aTg	p.T2500M	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.T2515M	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	2467					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAACTCTTGACGGAAGTGGCC	0.532000													13	91					0	0	1	0	0
ANKAR	150709	broad.mit.edu	37	2	190584454	190584454	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr2:190584454G>A	uc002uqw.2	+	10	2469	c.2381G>A	c.(2380-2382)tGt>tAt	p.C794Y	ANKAR_uc002uqu.3_Non-coding_Transcript|ANKAR_uc002uqx.2_Non-coding_Transcript	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA.	794						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CTACTGGTTTGTGATGAGCCT	0.398000													23	41					0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17953976	17953976	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr1:17953976G>T	uc001ban.3	+	14	1721	c.1562G>T	c.(1561-1563)aGt>aTt	p.S521I	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.S482I|ARHGEF10L_uc001bao.3_Missense_Mutation_p.S482I|ARHGEF10L_uc001bap.3_Missense_Mutation_p.S482I|ARHGEF10L_uc010ocr.1_Missense_Mutation_p.S279I|ARHGEF10L_uc001baq.3_Missense_Mutation_p.S287I|ARHGEF10L_uc010ocs.2_Missense_Mutation_p.S299I|ARHGEF10L_uc001bar.3_Missense_Mutation_p.S229I|ARHGEF10L_uc009vpf.3_Non-coding_Transcript	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.	521					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AAGAGCGTCAGTGACCGCAGC	0.667000													3	29					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31770237	31770237	+	Silent	SNP	A	A	G			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr19:31770237A>G	uc002nsy.4	-	1	527	c.462T>C	c.(460-462)agT>agC	p.S154S		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	154	Ser-rich.				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					tgctgctgctactgctgctgc	0.607000													3	18					0	0	1	0	0
SGK3	23678	broad.mit.edu	37	8	67705990	67705990	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr8:67705990A>G	uc003xwp.3	+	3	650	c.19A>G	c.(19-21)Atg>Gtg	p.M7V	SGK3_uc003xwr.3_Missense_Mutation_p.M7V|SGK3_uc003xwt.3_Missense_Mutation_p.M7V|SGK3_uc003xwu.3_Missense_Mutation_p.M7V	NM_001204173	NP_001191102	Q96BR1	SGK3_HUMAN	Homo sapiens C8orf44-SGK3 readthrough (C8orf44-SGK3), mRNA.	7					cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AGATCACACCATGGACTACAA	0.403000													16	27					0	0	1	0	0
NPIP	9284	broad.mit.edu	37	16	15045731	15045731	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr16:15045731C>T	uc002dcy.4	+	7	902	c.902C>T	c.(901-903)gCg>gTg	p.A301V	NPIP_uc002dcx.4_Non-coding_Transcript	NM_006985	NP_008916	Q9UND3	NPIP_HUMAN	Homo sapiens nuclear pore complex interacting protein (NPIP), mRNA.	301	Pro-rich.				mRNA transport|protein transport|transmembrane transport	nuclear membrane|nuclear pore											CCACCCTCAGCGGATGATAAT	0.557000													7	158					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46785281	46785281	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr22:46785281C>A	uc003bhw.1	-	17	6461	c.6461G>T	c.(6460-6462)cGc>cTc	p.R2154L	CELSR1_uc011arc.1_Missense_Mutation_p.R475L	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	2154					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			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)		GTAGGCCGTGCGCACGTCATT	0.672000													3	38					0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83640389	83640389	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr7:83640389T>G	uc003uhz.3	-	8	1259	c.944A>C	c.(943-945)aAc>aCc	p.N315T		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA.	315	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						ATCTTTAAAGTTCATTAGGAA	0.299000													6	44					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31770234	31770234	+	Silent	SNP	G	G	A			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr19:31770234G>A	uc002nsy.4	-	1	530	c.465C>T	c.(463-465)agC>agT	p.S155S		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	155	Ser-rich.				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S155S(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					tgctgctgctgctactgctgc	0.612000													3	17					0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42356070	42356070	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr14:42356070C>A	uc001wvm.3	+	2	1440	c.242C>A	c.(241-243)aCt>aAt	p.T81N	LRFN5_uc010ana.3_Missense_Mutation_p.T81N	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	81						integral to membrane		p.L80L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GTGGACCTGACTCTATCCAGG	0.373000										HNSCC(30;0.082)			27	36					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73066504	73066504	+	RNA	SNP	A	A	T			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chrX:73066504A>T	uc004ebm.1	-	0		c.6085T>A								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		GGAAGGGAAAAGTGGGGATGA	0.478000													4	19					0	0	1	0	0
ANKAR	150709	broad.mit.edu	37	2	190557050	190557050	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr2:190557050T>C	uc002uqw.2	+	3	1197	c.1109T>C	c.(1108-1110)tTt>tCt	p.F370S	ANKAR_uc002uqu.3_Non-coding_Transcript|ANKAR_uc002uqv.1_Missense_Mutation_p.F370S	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA.	370						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TGCCAGAATTTTCACTACAAA	0.318000													9	40					0	0	1	0	0
GALNT10	55568	broad.mit.edu	37	5	153760070	153760070	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr5:153760070G>A	uc003lvh.3	+	5	949	c.817G>A	c.(817-819)Gac>Aac	p.D273N	GALNT10_uc003lvg.1_Missense_Mutation_p.D273N|GALNT10_uc010jic.3_Non-coding_Transcript|GALNT10_uc010jid.3_Missense_Mutation_p.D114N	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) (GALNT10), mRNA.	273						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TGACCATGACGACTTTCGGTA	0.532000													17	185					0	0	1	0	0
RNF43	54894	broad.mit.edu	37	17	56434877	56434877	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr17:56434877C>G	uc002iwf.3	-	7	4216	c.2260G>C	c.(2260-2262)Ggc>Cgc	p.G754R	RNF43_uc010wnv.2_Missense_Mutation_p.G713R|RNF43_uc002iwh.4_Missense_Mutation_p.G754R|RNF43_uc002iwg.4_Missense_Mutation_p.G754R|RNF43_uc010dcw.3_Missense_Mutation_p.G627R	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	754	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CATGGCCTGCCCTCTGCGGTG	0.597000													16	99					0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75982728	75982728	+	Silent	SNP	T	T	C			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr15:75982728T>C	uc002baw.3	-	2	771	c.678A>G	c.(676-678)ctA>ctG	p.L226L		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	226	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	p.T225N(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GTGTAAACTCTAGGGTTCCTT	0.607000													3	24					0	0	1	0	0
PTPRA	5786	broad.mit.edu	37	20	2988040	2988040	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr20:2988040G>A	uc010zqd.2	+	9	1230	c.913G>A	c.(913-915)Gat>Aat	p.D305N	PTPRA_uc002whj.3_Missense_Mutation_p.D294N|PTPRA_uc002whk.3_Missense_Mutation_p.D285N|PTPRA_uc002whl.3_Missense_Mutation_p.D285N|PTPRA_uc002whm.3_Missense_Mutation_p.D61N|PTPRA_uc002whn.3_Missense_Mutation_p.D285N|PTPRA_uc002who.3_5'UTR	NM_002836	NP_002827	P18433	PTPRA_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, A (PTPRA), transcript variant 1, mRNA.	294	Tyrosine-protein phosphatase 1.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TCCAGATTCTGATTACATCAA	0.448000													48	95					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100349878	100349878	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr7:100349878C>T	uc003uwj.3	+	13	2315	c.2150C>T	c.(2149-2151)cCc>cTc	p.P717L	ZAN_uc003uwk.3_Missense_Mutation_p.P717L|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	717	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.P717L(3)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCAGAAAAACCCACCATCCCC	0.507000													3	63					0	0	1	0	0
SERPINA6	866	broad.mit.edu	37	14	94780979	94780979	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr14:94780979G>A	uc001ycv.3	-	1	111	c.7C>T	c.(7-9)Ctc>Ttc	p.L3F	SERPINA6_uc010auv.3_Non-coding_Transcript	NM_001756	NP_001747	P08185	CBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 (SERPINA6), mRNA.	3					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding	p.L3L(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TACAGGAGGAGTGGCATTGTC	0.547000													14	101					0	0	1	0	0
LENG8	114823	broad.mit.edu	37	19	54969308	54969308	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr19:54969308C>G	uc002qfv.1	+	12	1962	c.1818C>G	c.(1816-1818)tgC>tgG	p.C606W	LENG8_uc002qfw.2_Missense_Mutation_p.C643W|LENG8_uc021vbk.1_5'Flank			Q96PV6	LENG8_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 8 (LENG8), mRNA.	606							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		TTAACCAGTGCCAGACGCAGC	0.572000													13	123					0	0	1	0	0
MAST2	23139	broad.mit.edu	37	1	46495849	46495849	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr1:46495849delT	uc001cov.3	+	20	2775	c.2492delT	c.(2491-2493)gtgfs	p.V831fs	MAST2_uc001cow.3_Frame_Shift_Del_p.V831fs|MAST2_uc001coy.1_Frame_Shift_Del_p.V505fs|MAST2_uc001coz.1_Frame_Shift_Del_p.V716fs|MAST2_uc001cpa.3_Non-coding_Transcript	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA.	831	AGC-kinase C-terminal.				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GAGGAAGAAGTGAGTGAGGAT	0.572													12	90	---	---	---	---					
APOB	338	broad.mit.edu	37	2	21231438	21231440	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr2:21231438_21231440delGAG	uc002red.3	-	25	8428_8430	c.8300_8302delCTC	c.(8299-8304)cctctt>ctt	p.P2767del		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2767					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	p.S2766Y(1)		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)	AATGTGAAAAGAGGAGATTGGAT	0.438													17	184	---	---	---	---					
PIKFYVE	200576	broad.mit.edu	37	2	209163430	209163439	+	Frame_Shift_Del	DEL	CATCTGTCAG	-	-	rs150646524		TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr2:209163430_209163439delCATCTGTCAG	uc002vcz.3	+	7	1135_1144	c.977_986delCATCTGTCAG	c.(976-987)acatctgtcagtfs	p.T326fs	PIKFYVE_uc010fun.1_Frame_Shift_Del_p.T7fs|PIKFYVE_uc002vcy.1_Frame_Shift_Del_p.T326fs|PIKFYVE_uc002vcw.3_Frame_Shift_Del_p.T326fs|PIKFYVE_uc002vcv.3_Frame_Shift_Del_p.T229fs|PIKFYVE_uc002vcx.3_Frame_Shift_Del_p.T240fs	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	326					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	p.S327F(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TCATATGAGACATCTGTCAGTCCCCAGGCT	0.429													23	62	---	---	---	---					
VENTXP7	391518	broad.mit.edu	37	3	21447901	21447902	+	RNA	INS	-	CC	CC	rs143568999	by1000genomes	TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr3:21447901_21447902insCC	uc003ccd.3	+	0		c.684_685insCC								Homo sapiens VENT homeobox pseudogene 7 (VENTXP7), non-coding RNA.																		CTGGCATACCACCCCCCACGCC	0.663													4	4	---	---	---	---					
APC	324	broad.mit.edu	37	5	112175599	112175600	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr5:112175599_112175600insA	uc003kpz.4	+	16	4501_4502	c.4308_4309insA	c.(4306-4311)agtaaafs	p.S1436fs	APC_uc011cvt.2_Frame_Shift_Ins_p.S1418fs|APC_uc003kpy.4_Frame_Shift_Ins_p.S1436fs|APC_uc010jbz.3_Frame_Shift_Ins_p.S1153fs|APC_uc010jca.3_Frame_Shift_Ins_p.S736fs	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	1436	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.S1436fs*37(7)|p.R1435fs*38(4)|p.R1435*(3)|p.S1436fs*36(2)|p.S1436fs*33(2)|p.S1436fs*22(2)|p.K1437*(2)|p.?(1)|p.P1424fs*19(1)|p.K1192fs*3(1)|p.P1432fs*35(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CAAGCAGAAGTAAAACACCTCC	0.480		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			7	58	---	---	---	---					
ATG16L2	89849	broad.mit.edu	37	11	72528863	72528865	+	In_Frame_Del	DEL	AGG	-	-			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr11:72528863_72528865delAGG	uc001otd.3	+	2	321_323	c.281_283delAGG	c.(280-285)caggag>cag	p.E98del	ATG16L2_uc001otc.1_In_Frame_Del_p.E98del|ATG16L2_uc010rrf.1_In_Frame_Del_p.E98del|ATG16L2_uc001ote.3_5'UTR|ATG16L2_uc009ytj.2_In_Frame_Del_p.E98del	NM_033388	NP_203746	Q8NAA4	A16L2_HUMAN	Homo sapiens ATG16 autophagy related 16-like 2 (S. cerevisiae) (ATG16L2), mRNA.	98					autophagy|protein transport	cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			GTGAAGTGGCAGGAGGAGGAGGA	0.591													7	89	---	---	---	---					
DDX12P	440081	broad.mit.edu	37	12	9573263	9573266	+	RNA	DEL	AAGG	-	-	rs67134115		TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr12:9573263_9573266delAAGG	uc021qut.1	-	10		c.2132_2135delCCTT			DDX12P_uc001qvx.4_Intron|DDX12P_uc001qvy.1_5'Flank					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA.																		TCGTCCATCTaaggaaggaaggaa	0.593													8	60	---	---	---	---					
PRB2	653247	broad.mit.edu	37	12	11546788	11546790	+	In_Frame_Del	DEL	GGA	-	-			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr12:11546788_11546790delGGA	uc010shk.1	-	2	257_259	c.222_224delTCC	c.(220-225)cctcca>cca	p.74_75PP>P		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGCTTTCCTGGAGGAGGTGGGG	0.601													7	308	---	---	---	---					
SMCR7	125170	broad.mit.edu	37	17	18167778	18167780	+	In_Frame_Del	DEL	GCT	-	-			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr17:18167778_18167780delGCT	uc010vxq.2	+	3	1124_1126	c.1098_1100delGCT	c.(1096-1101)cggctg>cgg	p.L371del	SMCR7_uc002gsu.3_3'UTR|SMCR7_uc002gst.3_In_Frame_Del_p.L360del	NM_148886	NP_631901	Q96C03	SMCR7_HUMAN	Homo sapiens Smith-Magenis syndrome chromosome region, candidate 7 (SMCR7), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	360						integral to membrane	protein binding	p.L356R(1)|p.L370L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9	all_neural(463;0.228)					CTCGCCGGCGGCTGCTGCTGCTG	0.685													7	75	---	---	---	---					
OR7E24	26648	broad.mit.edu	37	19	9361740	9361741	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr19:9361740_9361741insT	uc002mlb.1	+	0	21_22	c.21_22insT	c.(19-24)ctctttfs	p.L7fs		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TTCCAATTCTCTTTTTTTTTTT	0.386													3	6	---	---	---	---					
C22orf43	51233	broad.mit.edu	37	22	23959767	23959769	+	In_Frame_Del	DEL	CAT	-	-			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr22:23959767_23959769delCAT	uc002zxf.3	-	6	810_812	c.512_514delATG	c.(511-516)gatgcc>gcc	p.D171del		NM_016449	NP_057533	Q6PGQ1	CV043_HUMAN	Homo sapiens chromosome 22 open reading frame 43 (C22orf43), mRNA.	171	Asp-rich.									endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						CTTACCTGGGcatcatcatcatc	0.433													7	74	---	---	---	---					
