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
GDA	9615	broad.mit.edu	37	9	74817548	74817548	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr9:74817548G>A	uc004air.3	+	2	483	c.274G>A	c.(274-276)Gga>Aga	p.G92R	GDA_uc011lse.2_Missense_Mutation_p.G18R|GDA_uc004aiq.3_Missense_Mutation_p.G92R|GDA_uc010mow.2_Non-coding_Transcript|GDA_uc011lsf.2_Missense_Mutation_p.G18R|GDA_uc004ais.3_Missense_Mutation_p.G50R|GDA_uc004ait.1_Missense_Mutation_p.G18R	NM_001242505	NP_001229434	Q9Y2T3	GUAD_HUMAN	Homo sapiens guanine deaminase (GDA), transcript variant 1, mRNA.	92					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		TTCCTTTGCTGGAAGTAGCAT	0.413000														56			47		0	0	0.014410	0	0
PIK3R4	30849	broad.mit.edu	37	3	130422672	130422672	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr3:130422672C>T	uc003enj.3	-	12	3574	c.2993G>A	c.(2992-2994)cGa>cAa	p.R998Q		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 4 (PIK3R4), mRNA.	998					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GACTCTAATTCGATTCACAGC	0.413000														59			53		0	0	0.014410	0	0
FNDC5	252995	broad.mit.edu	37	1	33333430	33333430	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr1:33333430C>G	uc001bwg.3	-	3	413	c.198G>C	c.(196-198)atG>atC	p.M66I	FNDC5_uc021okv.1_Missense_Mutation_p.M66I|FNDC5_uc001bwf.2_Missense_Mutation_p.M66I	NM_001171941	NP_001165412	Q8NAU1	FNDC5_HUMAN	Homo sapiens fibronectin type III domain containing 5 (FNDC5), transcript variant 1, mRNA.	125	Fibronectin type-III.					integral to membrane|peroxisomal membrane		p.M66L(1)		breast(1)|large_intestine(1)|lung(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CCATCTCTTTCATGGTTACCT	0.562000														27			14		0	0	0.020292	0	0
COL11A2	1302	broad.mit.edu	37	6	33141174	33141174	+	Missense_Mutation	SNP	G	A	A	rs150065075		TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr6:33141174G>A	uc003ocx.1	-	36	2915	c.2687C>T	c.(2686-2688)cCc>cTc	p.P896L	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.P810L|COL11A2_uc003ocz.1_Missense_Mutation_p.P789L	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	896	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CTTCCCAGGGGGGCCCTGGAA	0.597000														46			33		0	0	0.017118	0	0
EIF3D	8664	broad.mit.edu	37	22	36922104	36922104	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr22:36922104G>A	uc003apr.3	-	1	230	c.65C>T	c.(64-66)cCc>cTc	p.P22L	EIF3D_uc011amt.2_Missense_Mutation_p.P22L|EIF3D_uc011ams.2_5'UTR	NM_003753	NP_003744	O15371	EIF3D_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit D (EIF3D), mRNA.	22						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						AAACTGCTCGGGAACCGCACA	0.512000														52			37		0	0	0.019004	0	0
CTSL2	1515	broad.mit.edu	37	9	99797857	99797857	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr9:99797857G>A	uc010msi.3	-	5	947	c.740C>T	c.(739-741)tCc>tTc	p.S247F	CTSL2_uc004awt.3_Missense_Mutation_p.S247F|CTSL2_uc004awu.3_Missense_Mutation_p.S192F|CTSL2_uc010msj.2_Missense_Mutation_p.S192F	NM_001201575	NP_001188504	O60911	CATL2_HUMAN	Homo sapiens cathepsin L2 (CTSL2), transcript variant 2, mRNA.	247						lysosome	cysteine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(8)|lung(4)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(62;0.0559)				CATAGCAACGGAGATGGGCCC	0.473000														24			20		0	0	0.010504	0	0
TTN	7273	broad.mit.edu	37	2	179437711	179437711	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr2:179437711G>A	uc021vsy.1	-	274	65669	c.65444C>T	c.(65443-65445)tCg>tTg	p.S21815L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S15510L|TTN_uc021vta.1_Missense_Mutation_p.S15443L|TTN_uc021vtb.1_Missense_Mutation_p.S15318L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22742	Fibronectin type-III 58.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S15443*(1)|p.S15318*(1)|p.S21813*(1)|p.S15510*(1)|p.S21815*(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)			GATAGTATACGAAGTTGCCTT	0.483000														13			14		0	0	0.020292	0	0
FAM75A6	389730	broad.mit.edu	37	9	43630609	43630609	+	Silent	SNP	G	A	A	rs2261047		TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr9:43630609G>A	uc011lrb.2	-	0	122	c.93C>T	c.(91-93)acC>acT	p.T31T		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	31						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						CAAACACCAAGGTGAGGAAGA	0.473000														8			3		0	0	0.014758	0	0
GBP2	2634	broad.mit.edu	37	1	89586829	89586829	+	Silent	SNP	C	T	T	rs147250118	byFrequency	TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr1:89586829C>T	uc001dmz.1	-	2	586	c.315G>A	c.(313-315)gaG>gaA	p.E105E	GBP2_uc001dmy.1_Non-coding_Transcript	NM_004120	NP_004111	P32456	GBP2_HUMAN	Homo sapiens guanylate binding protein 2, interferon-inducible (GBP2), mRNA.	105					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		TTTTTACCTTCTCTATATCTC	0.413000														34			24		0	0	0.014323	0	0
HPS3	84343	broad.mit.edu	37	3	148889998	148889998	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr3:148889998C>T	uc003ewu.1	+	16	3144	c.3004C>T	c.(3004-3006)Cca>Tca	p.P1002S	CP_uc011bnr.2_Intron|HPS3_uc011bnq.1_Missense_Mutation_p.P837S|HPS3_uc003ewv.1_Non-coding_Transcript	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 3 (HPS3), mRNA.	1002						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TCGAAAGAAACCATTGACTTA	0.338000									Hermansky-Pudlak syndrome					17			7		0	0	0.003080	0	0
C4B	721	broad.mit.edu	37	6	31997061	31997061	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr6:31997061G>A	uc011dpd.2	+	27	3673	c.3622G>A	c.(3622-3624)Gac>Aac	p.D1208N	C4B_uc011dpe.2_Missense_Mutation_p.D1208N	NM_001242823	NP_001229752	P0C0L5	CO4B_HUMAN	Homo sapiens complement C4-B-like (LOC100293534), mRNA.	1208					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										GGCCCCTGCGGACCTGCGGGG	0.647000														36			30		0	0	0.009535	0	0
RIPK4	54101	broad.mit.edu	37	21	43162114	43162114	+	Silent	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr21:43162114G>A	uc002yzn.1	-	7	1287	c.1239C>T	c.(1237-1239)gcC>gcT	p.A413A		NM_020639	NP_065690	Q96T11	Q96T11_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.	413						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CGGACACGATGGCATCCACAA	0.627000														104			97		0	0	0.014410	0	0
CDHR4	389118	broad.mit.edu	37	3	49836822	49836822	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr3:49836822G>A	uc010hkz.3	-	1	107	c.98C>T	c.(97-99)cCt>cTt	p.P33L	CDHR4_uc003cxp.2_Missense_Mutation_p.P33L|CDHR4_uc011bcw.2_Missense_Mutation_p.P33L	NM_001007540	NP_001007541	A6H8M9	CDHR4_HUMAN	Homo sapiens cadherin-related family member 4 (CDHR4), mRNA.	33					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						GACTGTGCCAGGGCCCTGGCT	0.557000														9			11		0	0	0.010729	0	0
PEAR1	375033	broad.mit.edu	37	1	156873748	156873748	+	Silent	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr1:156873748C>T	uc001fqj.1	+	1	146	c.30C>T	c.(28-30)ctC>ctT	p.L10L	PEAR1_uc009wsl.1_5'Flank|PEAR1_uc001fqk.1_5'Flank	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	10						integral to membrane		p.L9F(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCTCCTTCTCCTGGCTGTGG	0.647000														78			55		0	0	0.014410	0	0
SLC13A4	26266	broad.mit.edu	37	7	135369006	135369006	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr7:135369006C>T	uc003vtb.3	-	14	2301	c.1612G>A	c.(1612-1614)Gaa>Aaa	p.E538K	SLC13A4_uc003vta.3_Missense_Mutation_p.E537K|C7orf73_uc003vsz.4_Intron	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 4 (SLC13A4), mRNA.	537						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						TGCAGCGTTTCAGACTAGAAG	0.483000														37			33		0	0	0.019004	0	0
ZNF544	27300	broad.mit.edu	37	19	58773811	58773811	+	Silent	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr19:58773811C>T	uc010euo.3	+	6	2313	c.1839C>T	c.(1837-1839)ttC>ttT	p.F613F	ZNF544_uc010yhw.1_Non-coding_Transcript|ZNF544_uc010yhx.2_Silent_p.F585F|ZNF544_uc010yhy.2_Silent_p.F585F|ZNF544_uc002qrt.4_Silent_p.F471F|ZNF544_uc002qru.4_Silent_p.F471F|BC063675_uc002qrx.1_Intron	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN	Homo sapiens zinc finger protein 544 (ZNF544), mRNA.	613					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		GAAAAGCCTTCAATCGAAGCA	0.453000														54			45		0	0	0.014410	0	0
ROBO3	64221	broad.mit.edu	37	11	124745065	124745065	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr11:124745065C>T	uc001qbc.3	+	13	2301	c.2132C>T	c.(2131-2133)cCt>cTt	p.P711L	ROBO3_uc010saq.2_5'Flank|ROBO3_uc001qbd.2_5'Flank|ROBO3_uc010sar.2_5'Flank|ROBO3_uc001qbe.3_5'Flank|ROBO3_uc001qbf.1_5'Flank	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA.	711	Fibronectin type-III 2.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GTAGCAGGCCCTGAGGGAGGA	0.592000														3			18		0	0	0.006122	0	0
BMP15	9210	broad.mit.edu	37	X	50659304	50659304	+	Silent	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chrX:50659304C>T	uc011mnw.2	+	1	925	c.876C>T	c.(874-876)tcC>tcT	p.S292S		NM_005448	NP_005439	O95972	BMP15_HUMAN	Homo sapiens bone morphogenetic protein 15 (BMP15), mRNA.	292					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity	p.C291C(1)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					ACCAGTGTTCCCTCCACCCTT	0.512000														5			47		0	0	0.014410	0	0
APBB2	323	broad.mit.edu	37	4	40947069	40947069	+	Nonsense_Mutation	SNP	G	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr4:40947069G>T	uc003gvn.3	-	6	1487	c.857C>A	c.(856-858)tCa>tAa	p.S286*	APBB2_uc010ifu.3_5'UTR|APBB2_uc003gvl.3_Nonsense_Mutation_p.S285*|APBB2_uc003gvm.3_Nonsense_Mutation_p.S285*|APBB2_uc011byt.1_Nonsense_Mutation_p.S268*	NM_004307	NP_004298	Q92870	APBB2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 2 (APBB2), transcript variant 1, mRNA.	285					cell cycle arrest|intracellular signal transduction|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						AGTCTGAAATGAGTGATCACT	0.478000														43			36		6.02846e-25	1.04621e-24	0.015359	1	0
CFHR2	3080	broad.mit.edu	37	1	196928177	196928177	+	Silent	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr1:196928177G>A	uc001gtq.1	+	4	857	c.780G>A	c.(778-780)ggG>ggA	p.G260G	CFHR2_uc001gtr.1_Silent_p.G136G	NM_005666	NP_005657	P36980	FHR2_HUMAN	Homo sapiens complement factor H-related 2 (CFHR2), mRNA.	260	Sushi 4.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						GTCAGAATGGGAAACTGGTAT	0.303000														11			35		0	0	0.021022	0	0
SDK2	54549	broad.mit.edu	37	17	71348681	71348681	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr17:71348681C>T	uc010dfm.3	-	40	5689	c.5689G>A	c.(5689-5691)Gac>Aac	p.D1897N	SDK2_uc002jjt.4_Missense_Mutation_p.D1037N|SDK2_uc002jjv.1_Non-coding_Transcript	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1897	Fibronectin type-III 13.				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						ACCCGGAAGTCATAGCTCACG	0.612000														12			33		0	0	0.015359	0	0
NPC1	4864	broad.mit.edu	37	18	21140301	21140301	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr18:21140301G>A	uc002kum.4	-	5	1049	c.775C>T	c.(775-777)Ccc>Tcc	p.P259S	NPC1_uc010xaz.2_Missense_Mutation_p.P43S|NPC1_uc010xba.1_Missense_Mutation_p.P104S	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	259	Poly-Pro.				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ATCGTCCAGGGAGCAGGAGGA	0.537000														44			26		0	0	0.021523	0	0
ST8SIA2	8128	broad.mit.edu	37	15	92977491	92977491	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr15:92977491T>G	uc002bra.3	+	2	331	c.176T>G	c.(175-177)aTa>aGa	p.I59R	ST8SIA2_uc002brb.3_Missense_Mutation_p.I38R	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 (ST8SIA2), mRNA.	59					N-glycan processing|axon guidance|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			GAAGTTGTAATAAACGGCTCC	0.448000														119			6		0	0	0.003080	0	0
LOC407835	407835	broad.mit.edu	37	7	128767045	128767045	+	Silent	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr7:128767045G>A	uc003voo.3	+	0	721	c.474G>A	c.(472-474)ctG>ctA	p.L158L						Homo sapiens mitogen-activated protein kinase kinase 2 pseudogene (LOC407835), non-coding RNA.																		ACCAGGGGCTGAAAGAGGCCA	0.592000														10			7		0	0	0.003080	0	0
LOC650368	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr11:3427845C>T	uc010qxs.1	+	8		c.838C>T			LOC650368_uc001lxy.2_Non-coding_Transcript					Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA.																		CTTCAAGTGGCAGGAGCAGAA	0.587000														55			7		0	0	0.001984	0	0
ACTN1	87	broad.mit.edu	37	14	69369277	69369277	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr14:69369277T>C	uc001xkl.3	-	7	989	c.679A>G	c.(679-681)Atc>Gtc	p.I227V	ACTN1_uc010ttb.2_Missense_Mutation_p.I162V|ACTN1_uc001xkm.3_Missense_Mutation_p.I227V|ACTN1_uc001xkn.3_Missense_Mutation_p.I227V|ACTN1_uc001xko.1_Missense_Mutation_p.I162V|ACTN1_uc010ttd.1_Missense_Mutation_p.I206V	NM_001102	NP_001093	P12814	ACTN1_HUMAN	Homo sapiens actinin, alpha 1 (ACTN1), transcript variant 2, mRNA.	227	Actin-binding.|CH 2.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GTTCCAACGATGTCTGTCAAG	0.547000														101			5		0	0	0.014758	0	0
SLC2A8	29988	broad.mit.edu	37	9	130167745	130167745	+	Silent	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr9:130167745G>A	uc004bqu.3	+	8	1242	c.1197G>A	c.(1195-1197)gaG>gaA	p.E399E	SLC2A8_uc010mxj.3_Intron	NM_014580	NP_055395	Q9NY64	GTR8_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 8 (SLC2A8), mRNA.	399						cytoplasmic vesicle membrane|integral to plasma membrane	D-glucose transmembrane transporter activity	p.S398S(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						TCATGTCAGAGATCTTCCCTC	0.627000														31			19		0	0	0.010504	0	0
PSMD1	5707	broad.mit.edu	37	2	232035369	232035369	+	Silent	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr2:232035369C>T	uc002vrn.2	+	23	2967	c.2805C>T	c.(2803-2805)atC>atT	p.I935I	PSMD1_uc002vrm.2_Silent_p.I904I|PSMD1_uc010fxu.2_Silent_p.I799I	NM_002807	NP_002798	Q99460	PSMD1_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 (PSMD1), transcript variant 1, mRNA.	935					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	GCCCAAAAATCGAGGAGGAGG	0.473000														34			26		0	0	0.021523	0	0
C4orf40	401137	broad.mit.edu	37	4	71024155	71024155	+	Silent	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr4:71024155C>T	uc003hfa.4	+	3	259	c.186C>T	c.(184-186)taC>taT	p.Y62Y	C4orf40_uc003hfb.4_Silent_p.Y62Y	NM_214711	NP_999876	Q6MZM9	CD040_HUMAN	Homo sapiens chromosome 4 open reading frame 40 (C4orf40), mRNA.	62						extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TCCCCAGTTACCCTGGGAATA	0.458000														91			76		0	0	0.014410	0	0
MLF1IP	79682	broad.mit.edu	37	4	185621975	185621975	+	Splice_Site	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr4:185621975G>A	uc003iwq.3	-	11	1056	c.986_splice	c.e11+1	p.R329_splice	MLF1IP_uc003iwp.3_Intron|MLF1IP_uc003iwr.1_Intron	NM_024629	NP_078905	Q71F23	CENPU_HUMAN	Homo sapiens MLF1 interacting protein (MLF1IP), mRNA.	329					CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1)	13		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		GTATCTTACCGAAGCAGTTCA	0.363000														65			39		0	0	0.010771	0	0
TICAM1	148022	broad.mit.edu	37	19	4817600	4817600	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr19:4817600G>A	uc002mbi.3	-	1	1041	c.790C>T	c.(790-792)Cca>Tca	p.P264S	TICAM1_uc021unj.1_Missense_Mutation_p.P264S	NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	Homo sapiens toll-like receptor adaptor molecule 1 (TICAM1), mRNA.	264	Pro-rich.				I-kappaB kinase/NF-kappaB cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		AGCTCTGGTGGGCTGGCAATC	0.677000														36			16		0	0	0.003163	0	0
MESDC2	23184	broad.mit.edu	37	15	81271781	81271781	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr15:81271781G>A	uc002bfy.1	-	2	557	c.484C>T	c.(484-486)Cgc>Tgc	p.R162C	MESDC2_uc002bfx.3_Non-coding_Transcript|MESDC2_uc010uno.2_Intron	NM_015154	NP_055969	Q14696	MESD_HUMAN	Homo sapiens mesoderm development candidate 2 (MESDC2), mRNA.	162	Chaperone domain (By similarity).				Wnt receptor signaling pathway|mesoderm development|protein folding	endoplasmic reticulum				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						CTCCCATCGCGAAGCATGAAG	0.547000														28			17		0	0	0.006122	0	0
KIAA1467	57613	broad.mit.edu	37	12	13220169	13220169	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr12:13220169G>A	uc001rbi.3	+	6	1104	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	KIAA1467_uc021qvn.1_Intron	NM_020853	NP_065904	A2RU67	K1467_HUMAN	Homo sapiens KIAA1467 (KIAA1467), mRNA.	361						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TCTGCAGATAGAAGAGCCAGA	0.483000														61			40		0	0	0.006230	0	0
NRXN3	9369	broad.mit.edu	37	14	79181157	79181157	+	Silent	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr14:79181157C>T	uc001xun.3	+	4	1091	c.600C>T	c.(598-600)atC>atT	p.I200I	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Silent_p.I334I	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	206	Laminin G-like.				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)		AGAGCGAGATCCTGGACCTGG	0.587000														68			64		0	0	0.014410	0	0
MYH7	4625	broad.mit.edu	37	14	23891495	23891495	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr14:23891495C>T	uc001wjx.3	-	24	3245	c.3139G>A	c.(3139-3141)Gac>Aac	p.D1047N		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1047					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CGCTCCAGGTCCATGCGCACC	0.577000														30			15		0	0	0.004007	0	0
FAM13C	220965	broad.mit.edu	37	10	61011251	61011251	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr10:61011251C>T	uc010qif.1	-	12	1850	c.1784G>A	c.(1783-1785)cGg>cAg	p.R595Q	FAM13C_uc010qid.2_Intron|FAM13C_uc001jkn.3_Intron|FAM13C_uc001jko.3_Intron|FAM13C_uc010qie.2_Intron	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	0										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AAAAAGTCACCGTTCCTGCAA	0.358000														3			37		0	0	0.015359	0	0
KIF3B	9371	broad.mit.edu	37	20	30918011	30918011	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr20:30918011C>T	uc002wxq.3	+	7	2216	c.2036C>T	c.(2035-2037)gCc>gTc	p.A679V	KIF3B_uc010ztw.2_Missense_Mutation_p.A617V	NM_004798	NP_004789	O15066	KIF3B_HUMAN	Homo sapiens kinesin family member 3B (KIF3B), mRNA.	679	Globular.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|Rho GTPase binding|plus-end-directed microtubule motor activity			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GAGGGTCCAGCCATTGCCCCC	0.517000														23			18		0	0	0.004990	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140189147	140189147	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr5:140189147C>T	uc003lhi.2	+	0	2476	c.2375C>T	c.(2374-2376)tCc>tTc	p.S792F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.S792F|PCDHAC2_uc011daa.2_Missense_Mutation_p.S792F	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	852					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTGAGGAATCCTTTGCAAAG	0.423000														8			39		0	0	0.010771	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656313	40656313	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr2:40656313G>A	uc002rrx.3	-	0	1132	c.1108C>T	c.(1108-1110)Cgc>Tgc	p.R370C	SLC8A1_uc002rry.3_Missense_Mutation_p.R370C|SLC8A1_uc002rsb.2_Missense_Mutation_p.R370C|SLC8A1_uc002rrz.3_Missense_Mutation_p.R370C|SLC8A1_uc002rsa.3_Missense_Mutation_p.R370C|SLC8A1_uc002rsd.4_Missense_Mutation_p.R370C|SLC8A1_uc010fan.1_Missense_Mutation_p.R370C|SLC8A1_uc002rsc.1_Missense_Mutation_p.R370C	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	370					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.R370S(2)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GTCATGAGGCGAGTAGCTTGA	0.428000														63			46		0	0	0.014410	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	T	T	rs121913254		TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr1:115256530G>T	uc009wgu.3	-	2	435	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				77			57		2.40265e-35	4.21427e-35	0.014410	1	0
C12orf63	374467	broad.mit.edu	37	12	97137677	97137677	+	Silent	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr12:97137677C>T	uc021rcc.1	+	20	2899	c.2821C>T	c.(2821-2823)Cta>Tta	p.L941L				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	941										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TCATAGCATTCTAACTGAACA	0.383000														9			28		0	0	0.009535	0	0
AKR1D1	6718	broad.mit.edu	37	7	137773460	137773460	+	Silent	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr7:137773460G>A	uc003vtz.3	+	1	294	c.207G>A	c.(205-207)agG>agA	p.R69R	AKR1D1_uc011kqd.1_Intron|AKR1D1_uc011kqb.1_Silent_p.R69R|AKR1D1_uc011kqc.1_Non-coding_Transcript|AKR1D1_uc011kqf.2_Silent_p.R69R|AKR1D1_uc011kqe.1_Silent_p.R69R|RN7SK_uc022amj.1_5'Flank	NM_005989	NP_005980	P51857	AK1D1_HUMAN	Homo sapiens aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) (AKR1D1), transcript variant 1, mRNA.	69					C21-steroid hormone metabolic process|androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						AGGCCATCAGGGAGAAGATAG	0.502000														12			12		0	0	0.010729	0	0
EPHA10	284656	broad.mit.edu	37	1	38227533	38227533	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr1:38227533C>T	uc009vvi.3	-	2	480	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	EPHA10_uc001cbw.4_Missense_Mutation_p.E132K	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	132						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCCTCAGTTTCCAGGTAGTAG	0.657000														65			53		0	0	0.014410	0	0
OR13C3	138803	broad.mit.edu	37	9	107298467	107298467	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr9:107298467C>T	uc004bcb.1	-	0	628	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						GCTAATATTTCACATGCGAAA	0.423000														65			53		0	0	0.014410	0	0
GRM7	2917	broad.mit.edu	37	3	7456736	7456736	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr3:7456736A>G	uc003bqm.2	+	4	1334	c.1060A>G	c.(1060-1062)Aca>Gca	p.T354A	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_Missense_Mutation_p.T354A|GRM7_uc003bql.2_Missense_Mutation_p.T354A|GRM7_uc003bqn.1_5'UTR	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	354					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)	TACGTCCCGTACACTTGAAAA	0.398000														36			3		0	0	0.004672	0	0
OR4S2	219431	broad.mit.edu	37	11	55419000	55419000	+	Silent	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr11:55419000G>A	uc001nhs.1	+	0	621	c.621G>A	c.(619-621)ggG>ggA	p.G207G		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA.	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TTGCTCTGGGGAGTTTTGTTA	0.483000														11			64		0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179472337	179472337	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr2:179472337G>A	uc021vsy.1	-	225	45599	c.45374C>T	c.(45373-45375)cCa>cTa	p.P15125L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P8820L|TTN_uc021vta.1_Missense_Mutation_p.P8753L|TTN_uc021vtb.1_Missense_Mutation_p.P8628L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16052	Fibronectin type-III 10.						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)			CACCACAGCTGGAATTCTAAG	0.458000														145			112		0	0	0.014410	0	0
OVOS2	0	broad.mit.edu	37	12	31298405	31298405	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr12:31298405G>A	uc010sjy.1	-	11	1580	c.1580C>T	c.(1579-1581)cCc>cTc	p.P527L						RecName: Full=Ovostatin homolog 2; Flags: Precursor;													all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TTCCCCACTGGGGTGAAGGGT	0.493000														13			13		0	0	0.004007	0	0
TCN2	6948	broad.mit.edu	37	22	31010335	31010335	+	Splice_Site	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr22:31010335G>A	uc003aip.2	+	4	677	c.428_splice	c.e4-1	p.G143_splice	TCN2_uc003air.2_Splice_Site_p.W116_splice	NM_000355	NP_000346	P20062	TCO2_HUMAN	Homo sapiens transcobalamin II (TCN2), transcript variant 1, mRNA.	143					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)	TTCCCTCTCAGGGCATGATCA	0.612000														17			15		0	0	0.003163	0	0
TRPC4	7223	broad.mit.edu	37	13	38266172	38266172	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr13:38266172T>C	uc010abx.3	-	3	1433	c.1198A>G	c.(1198-1200)Acc>Gcc	p.T400A	TRPC4_uc010abv.3_Intron|TRPC4_uc001uwt.3_Missense_Mutation_p.T400A|TRPC4_uc001uws.3_Missense_Mutation_p.T400A|TRPC4_uc010tey.2_Missense_Mutation_p.T400A|TRPC4_uc010abw.3_Missense_Mutation_p.T227A|TRPC4_uc010aby.3_Missense_Mutation_p.T400A	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	400					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TCGACGATGGTTGGTGGTGGA	0.453000														34			36		0	0	0.006230	0	0
CPZ	8532	broad.mit.edu	37	4	8621281	8621281	+	Silent	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr4:8621281C>T	uc003glm.3	+	10	2070	c.1896C>T	c.(1894-1896)ccC>ccT	p.P632P	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Silent_p.P621P|CPZ_uc003gln.3_Silent_p.P495P	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	632					Wnt receptor signaling pathway|proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGAGTAAGCCCTGGTGGTGGT	0.706000														27			26		0	0	0.008361	0	0
ZNF714	148206	broad.mit.edu	37	19	21300565	21300565	+	Silent	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr19:21300565G>A	uc002npo.4	+	4	1473	c.1095G>A	c.(1093-1095)gaG>gaA	p.E365E	ZNF714_uc002npl.3_Silent_p.E211E|ZNF714_uc002npn.3_Non-coding_Transcript|ZNF714_uc010ecp.2_Non-coding_Transcript|ZNF714_uc021urp.1_5'Flank	NM_182515	NP_872321	Q96N38	ZN714_HUMAN	Homo sapiens zinc finger protein 714 (ZNF714), mRNA.	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						ATACTGGAGAGAAACCCTACA	0.368000														15			13		0	0	0.016723	0	0
SUGP1	57794	broad.mit.edu	37	19	19427294	19427294	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr19:19427294G>A	uc002nmh.3	-	1	159	c.143C>T	c.(142-144)gCc>gTc	p.A48V	SUGP1_uc002nmi.3_5'UTR|SUGP1_uc002nmj.3_5'UTR|SUGP1_uc010xqr.2_Non-coding_Transcript|SUGP1_uc010xqs.2_Non-coding_Transcript	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN	Homo sapiens SURP and G patch domain containing 1 (SUGP1), mRNA.	48					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						TTCCATTTTGGCTTCAATTTC	0.537000														42			29		0	0	0.009535	0	0
USP37	57695	broad.mit.edu	37	2	219394755	219394755	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr2:219394755G>A	uc010fvs.1	-	9	1200	c.787C>T	c.(787-789)Cct>Tct	p.P263S	USP37_uc002vie.2_Missense_Mutation_p.P263S|USP37_uc010zkf.1_Missense_Mutation_p.P263S|USP37_uc002vif.2_Missense_Mutation_p.P263S|USP37_uc002vig.2_Missense_Mutation_p.P191S|USP37_uc010zkg.2_Missense_Mutation_p.P263S	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	Homo sapiens ubiquitin specific peptidase 37 (USP37), mRNA.	263					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		GACTGTAAAGGTAAAAGCCCT	0.328000														26			24		0	0	0.007291	0	0
FCRL3	115352	broad.mit.edu	37	1	157660321	157660321	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr1:157660321G>A	uc001fqz.4	-	8	1706	c.1414C>T	c.(1414-1416)Ccg>Tcg	p.P472S	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_Missense_Mutation_p.P198S|FCRL3_uc001frb.3_Missense_Mutation_p.P472S|FCRL3_uc001frc.1_Missense_Mutation_p.P472S	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	472						integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CGAGACACCGGAACTGAGGGA	0.537000														36			30		0	0	0.009535	0	0
GHR	2690	broad.mit.edu	37	5	42695075	42695075	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr5:42695075G>A	uc021xxv.1	+	4	481	c.344G>A	c.(343-345)gGg>gAg	p.G115E	GHR_uc003jmt.3_Missense_Mutation_p.G108E|GHR_uc003jmu.3_Missense_Mutation_p.G108E|GHR_uc003jmv.2_Missense_Mutation_p.G108E|GHR_uc021xxw.1_Missense_Mutation_p.G108E|GHR_uc021xxx.1_Missense_Mutation_p.G108E|GHR_uc021xxy.1_Missense_Mutation_p.G108E|GHR_uc021xxz.1_Missense_Mutation_p.G108E|GHR_uc021xya.1_Missense_Mutation_p.G108E|GHR_uc021xyb.1_Missense_Mutation_p.G108E|GHR_uc021xyc.1_Missense_Mutation_p.G108E|GHR_uc011cpq.2_5'UTR|GHR_uc021xyd.1_Missense_Mutation_p.G86E	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	108					2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GTTTCTGCTGGGGAAAACAGC	0.358000														2			15		0	0	0.003163	0	0
SLC9A4	389015	broad.mit.edu	37	2	103148791	103148791	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr2:103148791G>A	uc002tbz.4	+	11	2498	c.2041G>A	c.(2041-2043)Gat>Aat	p.D681N		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	681					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TTTCCTAGATGATGACAGCAG	0.443000														57			42		0	0	0.014410	0	0
TRIOBP	11078	broad.mit.edu	37	22	38130518	38130518	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr22:38130518C>T	uc003atr.3	+	8	4446	c.4175C>T	c.(4174-4176)tCc>tTc	p.S1392F	TRIOBP_uc003atu.3_Missense_Mutation_p.S1220F	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	1392					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CTCCAGGGGTCCCCGCTGCCC	0.657000														19			8		0	0	0.004482	0	0
MIIP	60672	broad.mit.edu	37	1	12091449	12091449	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr1:12091449C>T	uc001ato.2	+	8	1462	c.1069C>T	c.(1069-1071)Cct>Tct	p.P357S		NM_021933	NP_068752	Q5JXC2	MIIP_HUMAN	Homo sapiens migration and invasion inhibitory protein (MIIP), mRNA.	357										autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CACCAGCAGCCCTTTTCACCC	0.647000														4			43		0	0	0.014410	0	0
X97876	0	broad.mit.edu	37	9	66499680	66499680	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr9:66499680C>A	uc004aee.1	+	0	490	c.490C>A	c.(490-492)Ccc>Acc	p.P164T	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		TCATGTTAACCCCTTCCCAGG	0.582000														29			7		5.18039e-06	8.7586e-06	0.003080	1	0
OR4K2	390431	broad.mit.edu	37	14	20345295	20345295	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr14:20345295G>T	uc001vwh.1	+	0	869	c.869G>T	c.(868-870)aGg>aTg	p.R290M		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TATACTTTGAGGAATCAAGAA	0.358000														74			26		1.2476e-16	2.15375e-16	0.006320	1	0
NPFFR2	10886	broad.mit.edu	37	4	73013454	73013454	+	Silent	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr4:73013454G>A	uc003hgg.2	+	3	1592	c.1494G>A	c.(1492-1494)agG>agA	p.R498R	NPFFR2_uc010iig.2_Silent_p.R280R|NPFFR2_uc003hgi.2_Silent_p.R399R|NPFFR2_uc003hgh.2_Silent_p.R396R	NM_004885	NP_444264	Q9Y5X5	NPFF2_HUMAN	Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA.	498					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TGCTTTATAGGAAAAGTGCTG	0.373000														59			33		0	0	0.017118	0	0
FLNC	2318	broad.mit.edu	37	7	128490916	128490916	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr7:128490916G>A	uc003vnz.4	+	32	5667	c.5458G>A	c.(5458-5460)Ggc>Agc	p.G1820S	FLNC_uc003voa.4_Missense_Mutation_p.G1787S	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1820					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						CAACAAGGACGGCACCATCAC	0.607000														61			44		0	0	0.013114	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69344581	69344581	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr4:69344581C>T	uc003hdz.4	+	8	1046	c.982C>T	c.(982-984)Cat>Tat	p.H328Y		NM_014058	NP_054777	Q9UL52	TM11E_HUMAN	Homo sapiens transmembrane protease, serine 11E (TMPRSS11E), mRNA.	328	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						CAGTCAAAATCATCTTCGACA	0.343000														73			60		0	0	0.014410	0	0
OR4A5	81318	broad.mit.edu	37	11	51411646	51411646	+	Silent	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr11:51411646G>A	uc001nhi.2	-	0	803	c.750C>T	c.(748-750)ccC>ccT	p.P250P		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P250Q(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TGAAAATACAGGGTACAAAAA	0.393000														30			18		0	0	0.006122	0	0
MFGE8	4240	broad.mit.edu	37	15	89449881	89449881	+	Silent	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr15:89449881G>A	uc002bng.4	-	3	629	c.516C>T	c.(514-516)atC>atT	p.I172I	MFGE8_uc002bnf.4_Silent_p.I60I|MFGE8_uc002bnh.4_Silent_p.I172I|MFGE8_uc010bnn.3_Silent_p.I164I|MFGE8_uc010upq.2_Silent_p.I128I|MFGE8_uc010bno.3_Silent_p.I128I	NM_005928	NP_005919	Q08431	MFGM_HUMAN	Homo sapiens milk fat globule-EGF factor 8 protein (MFGE8), transcript variant 1, mRNA.	172	F5/8 type C 1.				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization					breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					TAACATCATGGATGAAATCGA	0.522000														56			45		0	0	0.014410	0	0
GP2	2813	broad.mit.edu	37	16	20329728	20329728	+	Silent	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr16:20329728C>T	uc002dgv.3	-	7	1124	c.1041G>A	c.(1039-1041)ggG>ggA	p.G347G	GP2_uc002dgw.3_Silent_p.G344G|GP2_uc002dgx.3_Silent_p.G200G|GP2_uc002dgy.3_Silent_p.G197G	NM_001007240	NP_001007241	P55259	GP2_HUMAN	Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA.	347	ZP.					anchored to membrane|extracellular region|plasma membrane		p.G346E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						ACTCTCCATTCCCGTCCACAC	0.473000														101			91		0	0	0.014410	0	0
NLRP7	199713	broad.mit.edu	37	19	55451265	55451265	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr19:55451265C>T	uc002qih.4	-	3	998	c.922G>A	c.(922-924)Gac>Aac	p.D308N	NLRP7_uc010esk.3_Missense_Mutation_p.D308N|NLRP7_uc002qig.4_Missense_Mutation_p.D308N|NLRP7_uc002qii.4_Missense_Mutation_p.D308N|NLRP7_uc010esl.3_Missense_Mutation_p.D336N	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	308	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AGCTGGAGGTCCCTCAGTGCC	0.617000														22			29		0	0	0.006320	0	0
ABCC1	4363	broad.mit.edu	37	16	16205272	16205272	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr16:16205272G>A	uc010bvi.3	+	21	3087	c.2912G>A	c.(2911-2913)gGa>gAa	p.G971E	ABCC1_uc010bvj.3_Missense_Mutation_p.G912E|ABCC1_uc010bvk.3_Missense_Mutation_p.G915E|ABCC1_uc010bvl.3_Missense_Mutation_p.G971E|ABCC1_uc010bvm.3_Missense_Mutation_p.G856E|ABCC1_uc002del.4_Missense_Mutation_p.G865E	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	971					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	AAGGCCATCGGACTCTTCATC	0.547000														109			82		0	0	0.014410	0	0
ANKRD11	29123	broad.mit.edu	37	16	89357183	89357183	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr16:89357183G>A	uc002fmx.1	-	5	912	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S	ANKRD11_uc002fmy.1_Missense_Mutation_p.P151S|ANKRD11_uc002fnc.1_Missense_Mutation_p.P151S|ANKRD11_uc002fnd.3_Missense_Mutation_p.P117S|ANKRD11_uc002fne.3_Missense_Mutation_p.P117S|ANKRD11_uc002fnb.1_Missense_Mutation_p.P108S	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	151						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCAGAGTTGGGCGTTCCCTTC	0.592000														53			47		0	0	0.014410	0	0
SFI1	9814	broad.mit.edu	37	22	31942914	31942914	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr22:31942914C>T	uc003ale.3	+	4	799	c.406C>T	c.(406-408)Cag>Tag	p.Q136*	SFI1_uc003ald.1_Nonsense_Mutation_p.Q112*|SFI1_uc003alf.3_Nonsense_Mutation_p.Q136*|SFI1_uc003alg.3_Nonsense_Mutation_p.Q54*|SFI1_uc011alp.2_Nonsense_Mutation_p.Q54*|SFI1_uc011alq.2_Nonsense_Mutation_p.Q112*|SFI1_uc003alh.3_Non-coding_Transcript	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	Homo sapiens Sfi1 homolog, spindle assembly associated (yeast) (SFI1), transcript variant 1, mRNA.	136					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						GTGGGTTTTCCAGCACGAGTG	0.393000														67			51		0	0	0.014410	0	0
TFPI2	7980	broad.mit.edu	37	7	93516204	93516204	+	Silent	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr7:93516204C>T	uc003umy.1	-	4	711	c.636G>A	c.(634-636)ttG>ttA	p.L212L	GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Silent_p.*187*|TFPI2_uc003una.1_Silent_p.L201L	NM_006528	NP_006519	P48307	TFPI2_HUMAN	Homo sapiens tissue factor pathway inhibitor 2 (TFPI2), mRNA.	212					blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			TTTTCTTTTTCAAAGCTAAAA	0.333000														78			61		0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179474673	179474673	+	Silent	SNP	A	G	G			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr2:179474673A>G	uc021vsy.1	-	220	43998	c.43773T>C	c.(43771-43773)ccT>ccC	p.P14591P	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.P8286P|TTN_uc021vta.1_Silent_p.P8219P|TTN_uc021vtb.1_Silent_p.P8094P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15518	Fibronectin type-III 5.						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)			CCTCCGCTGTAGGATTATGAA	0.403000														168			11		0	0	0.010729	0	0
HIVEP3	59269	broad.mit.edu	37	1	42049071	42049071	+	Silent	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr1:42049071C>T	uc001cgz.4	-	3	2611	c.1398G>A	c.(1396-1398)acG>acA	p.T466T	HIVEP3_uc001cha.4_Silent_p.T466T|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	466	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGATGAGCTTCGTGATGTGCT	0.637000														37			29		0	0	0.008361	0	0
KIF3C	3797	broad.mit.edu	37	2	26178485	26178485	+	Silent	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr2:26178485C>T	uc002rgu.2	-	2	2352	c.1695G>A	c.(1693-1695)gaG>gaA	p.E565E	KIF3C_uc010eyj.1_Non-coding_Transcript|KIF3C_uc010ykr.1_Silent_p.E565E	NM_002254	NP_002245	O14782	KIF3C_HUMAN	Homo sapiens kinesin family member 3C (KIF3C), mRNA.	565					blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATAGTCTCCTCGTCCCGGA	0.592000														87			7		0	0	0.003080	0	0
C1orf173	127254	broad.mit.edu	37	1	75038347	75038347	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr1:75038347C>T	uc001dgg.3	-	13	3266	c.3047G>A	c.(3046-3048)gGa>gAa	p.G1016E		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1016	Glu-rich.							p.G1016R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TGCAAGGCTTCCTTCCTCAGG	0.507000														43			39		0	0	0.021022	0	0
CYP8B1	1582	broad.mit.edu	37	3	42917193	42917193	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr3:42917193G>A	uc003cmh.3	-	0	441	c.116C>T	c.(115-117)aCc>aTc	p.T39I	CCBP2_uc003cmg.3_Intron	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA.	39					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CCAGGGCACGGTACCCTTGTC	0.577000														33			36		0	0	0.006230	0	0
EMR3	84658	broad.mit.edu	37	19	14779619	14779619	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr19:14779619G>A	uc002mzi.4	-	1	219	c.71C>T	c.(70-72)aCc>aTc	p.T24I	EMR3_uc010dzp.3_Missense_Mutation_p.T24I|EMR3_uc010xnv.2_Missense_Mutation_p.T24I	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA.	24	EGF-like 1.				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						CTCACTTTTGGTTTTCTGAGT	0.512000														44			21		0	0	0.012319	0	0
ZNF714	148206	broad.mit.edu	37	19	21300550	21300550	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr19:21300550G>A	uc002npo.4	+	4	1458	c.1080G>A	c.(1078-1080)atG>atA	p.M360I	ZNF714_uc002npl.3_Missense_Mutation_p.M206I|ZNF714_uc002npn.3_Non-coding_Transcript|ZNF714_uc010ecp.2_Non-coding_Transcript|ZNF714_uc021urp.1_5'Flank	NM_182515	NP_872321	Q96N38	ZN714_HUMAN	Homo sapiens zinc finger protein 714 (ZNF714), mRNA.	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						CACATAAGATGATTCATACTG	0.353000														15			14		0	0	0.016723	0	0
ECM2	1842	broad.mit.edu	37	9	95277159	95277159	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr9:95277159C>T	uc011lty.2	-	3	995	c.808G>A	c.(808-810)Gag>Aag	p.E270K	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|ECM2_uc004asf.4_Missense_Mutation_p.E248K|ECM2_uc004asg.3_Missense_Mutation_p.E248K	NM_001393	NP_001384	O94769	ECM2_HUMAN	Homo sapiens extracellular matrix protein 2, female organ and adipocyte specific (ECM2), transcript variant 1, mRNA.	270	Poly-Glu.				cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						tcctcctcctccCTTCCTTGG	0.602000														87			76		0	0	0.014410	0	0
BMX	660	broad.mit.edu	37	X	15555257	15555257	+	Splice_Site	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chrX:15555257G>A	uc004cww.3	+	14	1411	c.1223_splice	c.e14-1	p.G408_splice	BMX_uc004cwx.4_Splice_Site_p.G408_splice|BMX_uc004cwy.4_Splice_Site_p.G408_splice	NM_203281	NP_975010	P51813	BMX_HUMAN	Homo sapiens BMX non-receptor tyrosine kinase (BMX), transcript variant 1, mRNA.	408					cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					GCCTTGTTAGGAATCTGGGAA	0.483000														11			111		0	0	0.014410	0	0
PCDP1	200373	broad.mit.edu	37	2	120388367	120388367	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr2:120388367C>T	uc002tmb.3	+	19	2118	c.1006C>T	c.(1006-1008)Ctt>Ttt	p.L336F	PCDP1_uc010yyq.2_Missense_Mutation_p.L466F	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.	622						cilium	calmodulin binding					Colorectal(110;0.196)					CATCACAGCCCTTCCGAAACA	0.468000														46			49		0	0	0.014410	0	0
LRIF1	55791	broad.mit.edu	37	1	111494240	111494240	+	Silent	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr1:111494240G>A	uc001eaa.3	-	1	1522	c.1266C>T	c.(1264-1266)tcC>tcT	p.S422S	LRIF1_uc001dzz.3_Intron|LRIF1_uc001eab.3_Intron	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN	Homo sapiens ligand dependent nuclear receptor interacting factor 1 (LRIF1), transcript variant 1, mRNA.	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TCTCCATCTGGGAAGATTTAC	0.408000														95			91		0	0	0.014410	0	0
CDH15	1013	broad.mit.edu	37	16	89260307	89260307	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr16:89260307G>A	uc002fmt.3	+	12	2214	c.2137G>A	c.(2137-2139)Gac>Aac	p.D713N		NM_004933	NP_004924	P55291	CAD15_HUMAN	Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA.	713					adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GGACATCGCCGACTTCATCAA	0.647000														20			14		0	0	0.020292	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25161397	25161397	+	RNA	SNP	C	G	G	rs3874227	by1000genomes	TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr13:25161397C>G	uc001upm.3	+	7		c.921C>G			TPTE2P6_uc001upn.3_Non-coding_Transcript|TPTE2P6_uc001upo.3_Non-coding_Transcript					Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 6 (TPTE2P6), non-coding RNA.																		TGAAACATCTCTACAACTGGA	0.343000														23			3		0	0	0.004672	0	0
SND1	27044	broad.mit.edu	37	7	127343259	127343259	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr7:127343259C>T	uc003vmi.3	+	6	948	c.722C>T	c.(721-723)cCa>cTa	p.P241L		NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	Homo sapiens staphylococcal nuclease and tudor domain containing 1 (SND1), mRNA.	241	TNase-like 2.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|melanosome|nucleus	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						AGTGAAACTCCAGAGCCTTTT	0.488000														55			36		0	0	0.017118	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1798293	1798294	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr16:1798293_1798294CC>AA	uc010uvl.2	+	6	1163_1164	c.1043_1044CC>AA	c.(1042-1044)tcc>tAA	p.S348*	MAPK8IP3_uc002cmk.3_Nonsense_Mutation_p.S347*|MAPK8IP3_uc002cml.3_Nonsense_Mutation_p.S347*|MAPK8IP3_uc021tah.1_Nonsense_Mutation_p.S347*	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA.	347					vesicle-mediated transport	Golgi membrane	MAP-kinase scaffold activity|kinesin binding|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						ATTATTGACTCCACGCCAGAGC	0.609000														38			8		0	0	0.004672	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	102216	102216	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chrGL000209.1:102216T>C	uc021vdb.1	+	2	162	c.151T>C	c.(151-153)Tca>Cca	p.S51P	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010yie.2_Intron|KIR2DL2_uc002qul.2_Missense_Mutation_p.S51P	NM_014513	NP_055328	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 (KIR2DS5), mRNA.	51	Ig-like C2-type 1.				regulation of immune response	integral to membrane|plasma membrane	receptor activity										GCAATGTTGGTCAGATGTCAT	0.512000														109			5		0	0	0.001984	0	0
CPPED1	55313	broad.mit.edu	37	16	12758963	12758963	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr16:12758963A>G	uc002dca.4	-	3	836	c.725T>C	c.(724-726)gTc>gCc	p.V242A	CPPED1_uc002dcb.4_Missense_Mutation_p.V100A	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN	Homo sapiens calcineurin-like phosphoesterase domain containing 1 (CPPED1), transcript variant 1, mRNA.	242							hydrolase activity|metal ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						TGAGAACACGACTTTGACACC	0.517000														22			7		0	0	0.006214	0	0
SGSM3	27352	broad.mit.edu	37	22	40803207	40803207	+	Nonsense_Mutation	SNP	G	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr22:40803207G>T	uc003ayu.1	+	11	1452	c.1243G>T	c.(1243-1245)Gag>Tag	p.E415*	SGSM3_uc011aos.1_Nonsense_Mutation_p.E348*|SGSM3_uc011aot.1_Nonsense_Mutation_p.E352*	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN	Homo sapiens small G protein signaling modulator 3 (SGSM3), mRNA.	415					Rap protein signal transduction|cell cycle arrest	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						CCTCCTAGGGGAGGATGACCT	0.632000														29			22		9.95505e-16	1.70956e-15	0.014323	1	0
SCAP	22937	broad.mit.edu	37	3	47462218	47462218	+	Silent	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr3:47462218G>A	uc003crh.1	-	11	1644	c.1389C>T	c.(1387-1389)ccC>ccT	p.P463P	SCAP_uc011baz.1_Silent_p.P208P|SCAP_uc003crg.2_Silent_p.P71P	NM_012235	NP_036367	Q12770	SCAP_HUMAN	Homo sapiens SREBF chaperone (SCAP), mRNA.	463					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GCTTGGCTGAGGGCAGGCAGG	0.647000											OREG0015548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		45			22		0	0	0.021523	0	0
TTN	7273	broad.mit.edu	37	2	179628974	179628974	+	Silent	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr2:179628974G>A	uc021vsy.1	-	42	10269	c.10044C>T	c.(10042-10044)atC>atT	p.I3348I	TTN_uc021vsz.1_Silent_p.I3302I|TTN_uc021vta.1_Silent_p.I3302I|TTN_uc021vtb.1_Silent_p.I3302I|TTN_uc002umz.1_Silent_p.I9I|TTN_uc002unb.2_Silent_p.I3348I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4292	Ig-like 20.						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)			GAAGCGGGGTGATGATGGCAG	0.463000														30			37		0	0	0.017118	0	0
JA660597	0	broad.mit.edu	37	16	33965518	33965518	+	RNA	SNP	G	A	A	rs483066		TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr16:33965518G>A	uc021thn.1	+	0		c.11G>A								Sequence 663 from Patent WO2010139812.																		ATTGATCATCGACACTTCGAA	0.557000														16			12		0	0	0.016723	0	0
ABL1	25	broad.mit.edu	37	9	133759967	133759967	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr9:133759967C>G	uc004bzw.3	+	10	2293	c.2290C>G	c.(2290-2292)Cgg>Ggg	p.R764G	ABL1_uc004bzv.3_Missense_Mutation_p.R783G	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	764					DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	GGCTCTGCCTCGGAAGAGGGC	0.587000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""									44			22		0	0	0.010504	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	107462	107462	+	RNA	SNP	A	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chrGL000211.1:107462A>T	uc003boa.3	+	4		c.1002A>T								Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		GTAAGGGTCAATTTTTTATAT	0.294000														66			5		0	0	0.014758	0	0
GLI2	2736	broad.mit.edu	37	2	121726377	121726377	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr2:121726377A>G	uc010flp.3	+	4	761	c.731A>G	c.(730-732)gAc>gGc	p.D244G	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Intron|GLI2_uc002tmu.4_Intron|GLI2_uc002tmv.1_Silent_p.G114G|GLI2_uc010flo.1_Missense_Mutation_p.D119G|GLI2_uc002tmw.1_Missense_Mutation_p.D244G	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	244					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GCCAGCCTGGACCTGCAGCGG	0.652000														76			10		0	0	0.013537	0	0
C1orf168	199920	broad.mit.edu	37	1	57189292	57189292	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr1:57189292C>G	uc001cym.4	-	16	2349	c.1943G>C	c.(1942-1944)aGa>aCa	p.R648T	C1orf168_uc001cyl.3_Non-coding_Transcript	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	648										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TTTTTCTTCTCTTTTCATTCT	0.308000														11			13		0	0	0.013537	0	0
LIPE	3991	broad.mit.edu	37	19	42930801	42930801	+	Silent	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr19:42930801C>T	uc002otr.3	-	0	778	c.501G>A	c.(499-501)agG>agA	p.R167R	AK311181_uc010eif.1_Intron|AK310497_uc002ott.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron|LIPE_uc002ots.1_5'Flank	NM_005357	NP_005348	Q05469	LIPS_HUMAN	Homo sapiens lipase, hormone-sensitive (LIPE), mRNA.	167					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				CAGATGGCTCCCTTTTGGCTC	0.572000														53			43		0	0	0.014410	0	0
SLC15A2	6565	broad.mit.edu	37	3	121613329	121613329	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr3:121613329T>A	uc003eep.2	+	0	159	c.6T>A	c.(4-6)aaT>aaA	p.N2K	SLC15A2_uc011bjn.1_Missense_Mutation_p.N2K	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	2					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	CAGCCATGAATCCTTTCCAGA	0.498000														125			8		0	0	0.003080	0	0
GBF1	8729	broad.mit.edu	37	10	104120095	104120095	+	Silent	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr10:104120095C>T	uc001kux.2	+	11	1626	c.1332C>T	c.(1330-1332)gcC>gcT	p.A444A	GBF1_uc001kuw.3_3'UTR|GBF1_uc001kuy.2_Silent_p.A444A|GBF1_uc001kuz.2_Silent_p.A445A	NM_004193	NP_004184	Q92538	GBF1_HUMAN	Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA.	444					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CCCCTGTAGCCCAGTGCCAGA	0.527000														13			70		0	0	0.014410	0	0
OR4N2	390429	broad.mit.edu	37	14	20295728	20295728	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr14:20295728G>A	uc010tkv.2	+	0	121	c.121G>A	c.(121-123)Gga>Aga	p.G41R		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CATCCTCCCTGGAAATTTTCT	0.443000														254			111		0	0	0.014410	0	0
SLAMF8	56833	broad.mit.edu	37	1	159804974	159804974	+	Splice_Site	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr1:159804974G>A	uc001fue.4	+	5	992	c.782_splice	c.e5-1	p.G261_splice	VSIG8_uc001fug.1_3'UTR	NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN	Homo sapiens SLAM family member 8 (SLAMF8), mRNA.	261						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					TCCTTACCAGGGAAAAAGAAA	0.498000														33			18		0	0	0.007413	0	0
EPHA4	2043	broad.mit.edu	37	2	222308250	222308250	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr2:222308250G>C	uc002vmq.3	-	9	1893	c.1851C>G	c.(1849-1851)gaC>gaG	p.D617E	EPHA4_uc002vmr.2_Missense_Mutation_p.D617E|EPHA4_uc010zlm.1_Missense_Mutation_p.D558E	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	617						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TGCAGGATGCGTCAATTTCTT	0.408000														35			19		0	0	0.010504	0	0
RP1L1	94137	broad.mit.edu	37	8	10470689	10470689	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr8:10470689C>T	uc003wtc.3	-	3	1148	c.919G>A	c.(919-921)Gat>Aat	p.D307N		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	307					intracellular signal transduction			p.D307N(2)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TTCATGTCATCGCCAGCCACC	0.647000														8			75		0	0	0.014410	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24895678	24895678	+	Silent	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr13:24895678C>T	uc001upj.3	+	3	835	c.774C>T	c.(772-774)ttC>ttT	p.F258F	SPATA13_uc001upe.3_Non-coding_Transcript	NM_178540	NP_848635	P0C862	C1T9A_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 9 (C1QTNF9), mRNA.	258	C1q.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		TCACTGTTTTCTCCAGAAATG	0.448000														33			56		0	0	0.014410	0	0
LRTM1	57408	broad.mit.edu	37	3	54959002	54959002	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr3:54959002T>C	uc003dhl.3	-	1	382	c.248A>G	c.(247-249)aAc>aGc	p.N83S	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	83						integral to membrane		p.N83S(2)		breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		AAGGGAATTGTTGGACAAGTT	0.453000														30			15		0	0	0.020292	0	0
MUC16	94025	broad.mit.edu	37	19	9089213	9089213	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	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														32			23		0	0	0.014323	0	0
PMFBP1	83449	broad.mit.edu	37	16	72173222	72173222	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr16:72173222G>A	uc002fcc.4	-	6	1056	c.884C>T	c.(883-885)cCt>cTt	p.P295L	PMFBP1_uc002fcd.3_Missense_Mutation_p.P295L|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Missense_Mutation_p.P150L	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	295										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TGAGGAGCTAGGAGGGTATCT	0.468000														38			32		0	0	0.019004	0	0
RAET1K	646024	broad.mit.edu	37	6	150322321	150322321	+	RNA	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr6:150322321C>T	uc003qnq.3	-	1		c.556G>A								Homo sapiens retinoic acid early transcript 1K pseudogene (RAET1K), non-coding RNA.																		CCCCACCCTGCTTCCTTTCCT	0.512000														2			6		0	0	0.001168	0	0
PI4KA	5297	broad.mit.edu	37	22	21174114	21174114	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr22:21174114C>G	uc002zsz.4	-	5	691	c.430G>C	c.(430-432)Gag>Cag	p.E144Q	PI4KA_uc010gsq.2_Missense_Mutation_p.E230Q	NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	144					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			AGGAGAGACTCTTCCATGTTG	0.468000														102			63		0	0	0.014410	0	0
CLCN1	1180	broad.mit.edu	37	7	143028644	143028644	+	Splice_Site	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr7:143028644G>A	uc003wcr.1	+	10	1152	c.1065_splice	c.e10-1	p.G355_splice	CLCN1_uc011ktc.1_Splice_Site_p.G17_splice	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	355					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					ACACCCTCAGGATTTGCTGTG	0.473000														35			30		0	0	0.008361	0	0
HIGD2B	123346	broad.mit.edu	37	15	72972411	72972411	+	RNA	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr15:72972411C>T	uc002ava.3	-	1		c.456G>A								Homo sapiens HIG1 hypoxia inducible domain family, member 2B (HIGD2B), non-coding RNA.																		TCATATTCCTCATAGATTCCC	0.453000														9			5		0	0	0.014758	0	0
ADCY10	55811	broad.mit.edu	37	1	167874300	167874300	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr1:167874300C>T	uc001ger.3	-	1	377	c.79G>A	c.(79-81)Gga>Aga	p.G27R	ADCY10_uc010plj.2_Intron|ADCY10_uc009wvk.3_5'UTR|ADCY10_uc009wvl.3_Missense_Mutation_p.G27R|ADCY10_uc009wvm.2_Non-coding_Transcript	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	27					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GAGAAATGTCCATAGACAATG	0.413000														54			38		0	0	0.019004	0	0
BMP10	27302	broad.mit.edu	37	2	69093611	69093611	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr2:69093611C>T	uc002sez.1	-	1	586	c.427G>A	c.(427-429)Gct>Act	p.A143T		NM_014482	NP_055297	O95393	BMP10_HUMAN	Homo sapiens bone morphogenetic protein 10 (BMP10), mRNA.	143				A -> T (in Ref. 3; AAH69080).	BMP signaling pathway|Notch signaling pathway|activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	Z disc|cell surface|extracellular space	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						CTAAGTTCAGCCATGATGACC	0.453000														28			21		0	0	0.010504	0	0
KCNK1	3775	broad.mit.edu	37	1	233807194	233807194	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr1:233807194G>A	uc010pxo.1	+	2	1097	c.929G>A	c.(928-930)gGc>gAc	p.G310D		NM_002245	NP_002236	O00180	KCNK1_HUMAN	Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA.	310						voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.G310S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	CAGGCAGCTGGCATGAAAGAG	0.498000														33			28		0	0	0.007291	0	0
ABCA13	154664	broad.mit.edu	37	7	48317732	48317732	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr7:48317732A>G	uc003toq.2	+	17	6965	c.6941A>G	c.(6940-6942)gAt>gGt	p.D2314G		NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	2314					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTGAAACTGGATCAATTTCTT	0.239000														9			8		0	0	0.003080	0	0
PTPRT	11122	broad.mit.edu	37	20	41420038	41420038	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr20:41420038G>T	uc002xkg.3	-	2	467	c.283C>A	c.(283-285)Ctg>Atg	p.L95M	PTPRT_uc010ggj.3_Missense_Mutation_p.L95M	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	95	MAM.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TTCTCCTTCAGGGTTGGCAGG	0.557000														29			6		3.59834e-05	6.05259e-05	0.001168	1	0
UBQLN1	29979	broad.mit.edu	37	9	86281333	86281333	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr9:86281333G>A	uc004amv.3	-	7	1838	c.1264C>T	c.(1264-1266)Ccc>Tcc	p.P422S	UBQLN1_uc004amw.3_Intron	NM_013438	NP_038466	Q9UMX0	UBQL1_HUMAN	Homo sapiens ubiquilin 1 (UBQLN1), transcript variant 1, mRNA.	422					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						GCAAATAGGGGATTATTCAGC	0.388000														37			24		0	0	0.005443	0	0
HSD17B11	51170	broad.mit.edu	37	4	88258515	88258515	+	Silent	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr4:88258515G>A	uc003hqp.2	-	6	1049	c.816C>T	c.(814-816)atC>atT	p.I272I		NM_016245	NP_057329	Q8NBQ5	DHB11_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 11 (HSD17B11), mRNA.	272					androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		GCTCAGGAAGGATCCTAAAAG	0.294000														43			32		0	0	0.010818	0	0
RNF17	56163	broad.mit.edu	37	13	25453355	25453355	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr13:25453355T>C	uc001upr.3	+	34	4845	c.4804T>C	c.(4804-4806)Tat>Cat	p.Y1602H	RNF17_uc010tde.2_Missense_Mutation_p.Y1598H|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.Y1541H|RNF17_uc010aac.3_Missense_Mutation_p.Y794H|RNF17_uc010aad.3_Missense_Mutation_p.Y612H	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	1602					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			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)		AGTGACATTATATGACGATGA	0.393000														22			3		0	0	0.004672	0	0
PI4KA	5297	broad.mit.edu	37	22	21174134	21174134	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr22:21174134C>G	uc002zsz.4	-	5	671	c.410G>C	c.(409-411)gGg>gCg	p.G137A	PI4KA_uc010gsq.2_Missense_Mutation_p.G223A	NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	137					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GCTGTAACGCCCAAATGCTCG	0.448000														97			61		0	0	0.014410	0	0
ACTR3C	653857	broad.mit.edu	37	7	149990406	149990406	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr7:149990406G>A	uc003wgu.2	-	2	338	c.148C>T	c.(148-150)Cca>Tca	p.P50S	ACTR3C_uc022aps.1_Missense_Mutation_p.P50S	NM_001164459	NP_001157931	Q9C0K3	ARP3C_HUMAN	Homo sapiens ARP3 actin-related protein 3 homolog C (yeast) (ACTR3C), transcript variant 2, mRNA.	50					regulation of actin filament polymerization	cytoskeleton	ATP binding|actin binding										CTTACCACTGGGATAACATGG	0.423000														7			5		0	0	0.003080	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459952	107459952	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr2:107459952C>T	uc002tdq.3	-	1	601	c.482G>A	c.(481-483)gGg>gAg	p.G161E	ST6GAL2_uc002tdr.3_Missense_Mutation_p.G161E|ST6GAL2_uc002tds.3_Missense_Mutation_p.G161E	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	161					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CGGAAAAGCCCCCTCCCGTGG	0.647000														79			94		0	0	0.014410	0	0
B4GALNT3	283358	broad.mit.edu	37	12	662562	662562	+	Silent	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr12:662562C>T	uc001qii.1	+	13	1473	c.1473C>T	c.(1471-1473)tcC>tcT	p.S491S	B4GALNT3_uc001qij.1_Silent_p.S394S|B4GALNT3_uc001qik.1_Silent_p.S40S	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	491						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CCCCCTTCTCCAAGCGGAACT	0.642000														54			38		0	0	0.019004	0	0
RUNX1T1	862	broad.mit.edu	37	8	92988200	92988200	+	Splice_Site	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr8:92988200G>A	uc022axs.1	-	10	1644	c.1457_splice	c.e10-1	p.D486_splice	RUNX1T1_uc003yfc.2_Splice_Site_p.D400_splice|RUNX1T1_uc010mam.3_Splice_Site_p.D400_splice|RUNX1T1_uc003yfe.2_Splice_Site_p.D390_splice|RUNX1T1_uc003yfd.3_Splice_Site_p.D427_splice|RUNX1T1_uc022axo.1_Splice_Site_p.D427_splice|RUNX1T1_uc010mao.3_Splice_Site_p.D400_splice|RUNX1T1_uc011lgi.2_Splice_Site_p.D438_splice|RUNX1T1_uc022axp.1_Splice_Site_p.D427_splice|RUNX1T1_uc022axq.1_Splice_Site_p.D427_splice|RUNX1T1_uc022axr.1_Splice_Site_p.D427_splice|RUNX1T1_uc022axt.1_Splice_Site_p.D427_splice|RUNX1T1_uc022axu.1_Splice_Site_p.D407_splice|RUNX1T1_uc022axv.1_Splice_Site_p.D427_splice|RUNX1T1_uc010man.2_Splice_Site_p.H52_splice|RUNX1T1_uc003yfb.2_Splice_Site_p.D390_splice	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.	427					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)			CCCGATGCGCGTCTATGAAAA	0.483000														173			7		0	0	0.003080	0	0
BANK1	55024	broad.mit.edu	37	4	102750985	102750985	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr4:102750985A>T	uc003hvy.4	+	1	365	c.91A>T	c.(91-93)Atg>Ttg	p.M31L	BANK1_uc003hvx.4_Missense_Mutation_p.M16L|BANK1_uc010ill.3_Intron|BANK1_uc003hvz.4_Missense_Mutation_p.M1L	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN	Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.	31	Interaction with ITPR2.				B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		AGATATAATAATGATATATGA	0.294000														14			10		0	0	0.008291	0	0
LRRC52	440699	broad.mit.edu	37	1	165513978	165513978	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr1:165513978A>C	uc001gde.2	+	0	501	c.445A>C	c.(445-447)Acc>Ccc	p.T149P	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.3_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	Homo sapiens leucine rich repeat containing 52 (LRRC52), mRNA.	149						integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					CTTTGCCAACACCACCTCTTT	0.522000														94			83		0	0	0.014410	0	0
OR51L1	119682	broad.mit.edu	37	11	5021013	5021013	+	Silent	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr11:5021013G>A	uc010qyu.2	+	0	801	c.801G>A	c.(799-801)ggG>ggA	p.G267G		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCGCTTTGGGAAGCATCTGT	0.463000														39			14		0	0	0.016723	0	0
PMP2	5375	broad.mit.edu	37	8	82356831	82356831	+	Silent	SNP	G	A	A	rs149339630		TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr8:82356831G>A	uc003ycb.1	-	2	350	c.252C>T	c.(250-252)atC>atT	p.I84I	PMP2_uc010lzv.1_Non-coding_Transcript	NM_002677	NP_002668	P02689	MYP2_HUMAN	Homo sapiens peripheral myelin protein 2 (PMP2), mRNA.	84						cytoplasm	cholesterol binding|fatty acid binding|transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			Epithelial(68;0.186)			GCAGGGTTACGATGCTCTGCA	0.403000														20			34		0	0	0.019004	0	0
ATP13A5	344905	broad.mit.edu	37	3	192992869	192992869	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr3:192992869C>T	uc011bsq.2	-	29	3619	c.3619G>A	c.(3619-3621)Ggc>Agc	p.G1207S		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	1207					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GTGGGTTGGCCTCCCAATTTG	0.418000														75			68		0	0	0.014410	0	0
UGT3A1	133688	broad.mit.edu	37	5	35954319	35954319	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr5:35954319C>A	uc003jjv.2	-	6	1750	c.1557G>T	c.(1555-1557)aaG>aaT	p.K519N	UGT3A1_uc003jjw.2_Non-coding_Transcript	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	519						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCTTCTTCACCTTCCTGGCCC	0.597000														3			16		5.01169e-05	8.38692e-05	0.004990	1	0
TMEM108	66000	broad.mit.edu	37	3	133098779	133098779	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr3:133098779C>T	uc003epi.3	+	3	494	c.224C>T	c.(223-225)tCa>tTa	p.S75L	TMEM108_uc003eph.3_Missense_Mutation_p.S75L|TMEM108_uc003epj.1_Missense_Mutation_p.S75L|TMEM108_uc003epk.3_Intron	NM_001136469	NP_076432	Q6UXF1	TM108_HUMAN	Homo sapiens transmembrane protein 108 (TMEM108), transcript variant 2, mRNA.	75	Pro-rich.					integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGACCCCCCTCACAGGCTGCA	0.632000														44			46		0	0	0.014410	0	0
NOX4	50507	broad.mit.edu	37	11	89069079	89069079	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr11:89069079G>A	uc001pct.3	-	16	1789	c.1550C>T	c.(1549-1551)tCa>tTa	p.S517L	NOX4_uc009yvr.3_Missense_Mutation_p.S492L|NOX4_uc001pcu.3_Missense_Mutation_p.S443L|NOX4_uc001pcw.3_Missense_Mutation_p.S210L|NOX4_uc001pcx.3_Missense_Mutation_p.S170L|NOX4_uc001pcv.3_Missense_Mutation_p.S477L|NOX4_uc009yvo.3_Non-coding_Transcript|NOX4_uc010rtu.2_Missense_Mutation_p.S330L|NOX4_uc009yvp.3_Missense_Mutation_p.S281L|NOX4_uc010rtv.2_Missense_Mutation_p.S453L|NOX4_uc009yvq.3_Missense_Mutation_p.S493L	NM_016931	NP_001137309	Q9NPH5	NOX4_HUMAN	Homo sapiens NADPH oxidase 4 (NOX4), transcript variant 1, mRNA.	517	Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|heme binding|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AAACAGTCTTGAATTCAGTGC	0.323000														4			30		0	0	0.017118	0	0
LYN	4067	broad.mit.edu	37	8	56863053	56863053	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr8:56863053C>A	uc003xsk.4	+	4	602	c.320C>A	c.(319-321)aCa>aAa	p.T107K	LYN_uc003xsl.4_Missense_Mutation_p.T86K	NM_002350	NP_002341	P07948	LYN_HUMAN	Homo sapiens v-yes-1 Yamaguchi sarcoma viral related oncogene homolog (LYN), transcript variant 1, mRNA.	107	SH3.				T cell costimulation|erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus	Golgi apparatus|cytosol|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			TCCCTTTTAACAAAAAAAGAA	0.378000														107			89		5.29478e-28	9.23771e-28	0.014410	1	0
CES1	1066	broad.mit.edu	37	16	55857517	55857517	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr16:55857517C>T	uc002eim.3	-	3	589	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	CES1_uc002eil.3_Missense_Mutation_p.E162K|CES1_uc002ein.3_Missense_Mutation_p.E161K	NM_001025194	NP_001020365	P23141	EST1_HUMAN	Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA.	161					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	ACCACGTTTTCATGGGCAGCA	0.567000														68			16		0	0	0.007413	0	0
CDH26	60437	broad.mit.edu	37	20	58567484	58567484	+	Silent	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr20:58567484C>T	uc002ybe.3	+	9	1646	c.1335C>T	c.(1333-1335)tcC>tcT	p.S445S	CDH26_uc002ybf.1_Silent_p.S25S|CDH26_uc010zzy.2_Non-coding_Transcript	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	Homo sapiens cadherin 26 (CDH26), transcript variant a, mRNA.	445	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S445S(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			ACAAAAACTCCGGAGTGGTCA	0.398000														21			16		0	0	0.006122	0	0
AGAP2	116986	broad.mit.edu	37	12	58121793	58121793	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr12:58121793C>A	uc001spq.3	-	14	2693	c.2693G>T	c.(2692-2694)cGg>cTg	p.R898L	AGAP2_uc001spp.3_Missense_Mutation_p.R897L|AGAP2_uc001spr.3_Missense_Mutation_p.R542L|LOC100130776_uc001sps.4_3'UTR	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 (AGAP2), transcript variant 1, mRNA.	898	PH.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CCAGGCATCCCGCTCCTCAAA	0.562000														321			8		0.00448238	0.00746305	0.004482	1	0
ADAMDEC1	27299	broad.mit.edu	37	8	24253266	24253266	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr8:24253266G>A	uc003xdz.2	+	4	617	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	ADAMDEC1_uc010lub.2_Missense_Mutation_p.E54K|ADAMDEC1_uc011lab.1_Missense_Mutation_p.E54K	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	133					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.E133K(1)		NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CATCCTAAATGAAAAGAATTC	0.363000														8			16		0	0	0.008871	0	0
MKL1	57591	broad.mit.edu	37	22	40820310	40820310	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr22:40820310T>C	uc003ayv.1	-	4	584	c.377A>G	c.(376-378)gAg>gGg	p.E126G	MKL1_uc010gyf.1_Missense_Mutation_p.E126G|MKL1_uc003ayw.1_Missense_Mutation_p.E126G|MKL1_uc010gye.1_Missense_Mutation_p.E126G	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	126	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GGCAGGCTGCTCGGGGGATAA	0.602000			T	RBM15	acute megakaryocytic leukemia									74			4		0	0	0.014758	0	0
C12orf5	57103	broad.mit.edu	37	12	4430444	4430444	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr12:4430444C>T	uc001qmp.3	+	0	86	c.7C>T	c.(7-9)Cgc>Tgc	p.R3C		NM_020375	NP_065108	Q9NQ88	TIGAR_HUMAN	Homo sapiens chromosome 12 open reading frame 5 (C12orf5), mRNA.	3						intracellular	fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(1)|large_intestine(1)|lung(5)|skin(3)	10			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			GAACATGGCTCGCTTCGCTCT	0.657000														35			42		0	0	0.014410	0	0
TRPM6	140803	broad.mit.edu	37	9	77416982	77416982	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr9:77416982C>A	uc004ajl.1	-	15	2079	c.1841G>T	c.(1840-1842)tGg>tTg	p.W614L	TRPM6_uc004ajk.1_Missense_Mutation_p.W609L|TRPM6_uc022bib.1_Missense_Mutation_p.W609L|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	614					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CAGCACAGCCCAAACCAGCAG	0.463000														24			14		3.27435e-08	5.5647e-08	0.020292	1	0
ART4	420	broad.mit.edu	37	12	14994061	14994061	+	Silent	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr12:14994061G>A	uc001rcl.1	-	1	537	c.171C>T	c.(169-171)ttC>ttT	p.F57F	ART4_uc009zid.1_Non-coding_Transcript|ART4_uc009zie.1_Intron|ART4_uc001rcm.1_Silent_p.F57F	NM_021071	NP_066549	Q93070	NAR4_HUMAN	Homo sapiens ADP-ribosyltransferase 4 (Dombrock blood group) (ART4), mRNA.	57					arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						AACCTGGTGCGAAGTCGAAGT	0.373000														48			26		0	0	0.004656	0	0
SCN5A	6331	broad.mit.edu	37	3	38592632	38592632	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr3:38592632C>T	uc021wvo.1	-	26	5283	c.5231G>A	c.(5230-5232)aGc>aAc	p.S1744N	SCN5A_uc021wvk.1_Missense_Mutation_p.S1711N|SCN5A_uc021wvl.1_Missense_Mutation_p.S1690N|SCN5A_uc021wvm.1_Missense_Mutation_p.S1726N|SCN5A_uc021wvn.1_Missense_Mutation_p.S1743N|SCN5A_uc021wvp.1_Missense_Mutation_p.S1744N|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.S1556N|SCN5A_uc021wvi.1_Missense_Mutation_p.S1610N	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1744					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	p.G1743R(1)		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)	CACGGCTGGGCTCCCGCAGTC	0.607000														32			38		0	0	0.021022	0	0
XIRP2	129446	broad.mit.edu	37	2	167760325	167760325	+	Silent	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr2:167760325C>T	uc002udx.3	+	1	422	c.333C>T	c.(331-333)tcC>tcT	p.S111S	XIRP2_uc010fpn.3_Silent_p.S111S|XIRP2_uc010fpo.3_Silent_p.S111S	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						AACGCTTTTCCATTGCCCTTG	0.502000														37			46		0	0	0.014410	0	0
HEATR2	54919	broad.mit.edu	37	7	803575	803575	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr7:803575G>A	uc010krz.1	+	7	1767	c.1747G>A	c.(1747-1749)Gag>Aag	p.E583K	HEATR2_uc003siz.2_Missense_Mutation_p.E451K|HEATR2_uc003sja.3_Missense_Mutation_p.E41K	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	Homo sapiens HEAT repeat containing 2 (HEATR2), mRNA.	583							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		ACACTCGCCGGAGCTCCTGCA	0.667000														66			45		0	0	0.013114	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767673	77767673	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr8:77767673C>T	uc003yau.2	+	9	8903	c.8516C>T	c.(8515-8517)cCc>cTc	p.P2839L	ZFHX4_uc003yaw.1_Missense_Mutation_p.P2794L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2794						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P2839H(2)		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)			GCTTTGTCTCCCAAAGAGCCA	0.498000										HNSCC(33;0.089)				29			21		0	0	0.012319	0	0
BMX	660	broad.mit.edu	37	X	15540574	15540574	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chrX:15540574C>G	uc004cww.3	+	6	804	c.616C>G	c.(616-618)Cca>Gca	p.P206A	BMX_uc004cwx.4_Missense_Mutation_p.P206A|BMX_uc004cwy.4_Missense_Mutation_p.P206A	NM_203281	NP_975010	P51813	BMX_HUMAN	Homo sapiens BMX non-receptor tyrosine kinase (BMX), transcript variant 1, mRNA.	206					cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	p.Q205K(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					TGGCTCCCAGCCACCATCTTC	0.443000														70			4		0	0	0.009096	0	0
MLL2	8085	broad.mit.edu	37	12	49435296	49435296	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr12:49435296T>C	uc001rta.4	-	30	6257	c.6257A>G	c.(6256-6258)aAg>aGg	p.K2086R		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	2086					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CTTGGTCTGCTTGTTGATCTG	0.667000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				82			29		0	0	0.009535	0	0
KIAA0226	9711	broad.mit.edu	37	3	197427607	197427607	+	Silent	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr3:197427607G>A	uc003fyc.2	-	6	1321	c.1138C>T	c.(1138-1140)Ctg>Ttg	p.L380L	KIAA0226_uc003fyd.3_Silent_p.L320L|KIAA0226_uc003fye.1_Silent_p.L87L|KIAA0226_uc003fyf.3_Silent_p.L213L|KIAA0226_uc003fyg.3_Silent_p.L373L	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Homo sapiens KIAA0226 (KIAA0226), transcript variant 2, mRNA.	380	Ser-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		ACACTGGACAGCTGGCTCTCC	0.577000														34			18		0	0	0.008871	0	0
F13A1	2162	broad.mit.edu	37	6	6248600	6248600	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr6:6248600A>G	uc003mwv.3	-	5	866	c.743T>C	c.(742-744)aTg>aCg	p.M248T	F13A1_uc011dib.2_Missense_Mutation_p.M185T	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	248					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	AGAGAGGTCCATTTGTGCTCT	0.438000														32			20		0	0	0.014323	0	0
FSIP2	401024	broad.mit.edu	37	2	186672961	186672961	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr2:186672961G>A	uc002upl.3	+	16	19195	c.19195G>A	c.(19195-19197)Gaa>Aaa	p.E6399K	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ATCAAATTCAGAATTAGTTCT	0.318000														37			23		0	0	0.012319	0	0
NDFIP2	54602	broad.mit.edu	37	13	80125153	80125153	+	Splice_Site	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr13:80125153C>T	uc001vlf.3	+	7	988	c.908_splice	c.e7-1	p.G303_splice	NDFIP2_uc010tib.2_Splice_Site_p.G283_splice|NDFIP2_uc001vlg.3_Splice_Site	NM_019080	NP_061953	Q9NV92	NFIP2_HUMAN	Homo sapiens Nedd4 family interacting protein 2 (NDFIP2), transcript variant 1, mRNA.	303					negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	Golgi membrane|endoplasmic reticulum|integral to membrane|mitochondrion|multivesicular body membrane|perinuclear region of cytoplasm	WW domain binding|signal transducer activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|lung(3)|ovary(2)|prostate(1)|skin(1)	14		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0196)		CCTTCTCAGGCCTGCTCCTTT	0.323000														118			67		0	0	0.014410	0	0
RALGDS	5900	broad.mit.edu	37	9	136029198	136029198	+	Silent	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr9:136029198G>A	uc004ccw.3	-	6	1091	c.810C>T	c.(808-810)gcC>gcT	p.A270A	RALGDS_uc011mcw.2_Intron|RALGDS_uc010nab.3_3'UTR|RALGDS_uc011mcx.2_Silent_p.A253A|RALGDS_uc010nac.1_Silent_p.A134A|RALGDS_uc004ccy.1_3'UTR	NM_021996	NP_068836	Q12967	GNDS_HUMAN	Homo sapiens globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (GBGT1), mRNA.	0					Ras protein signal transduction|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CATATACCCTGGCCACCTGCC	0.597000			T	CIITA	"""PMBL, Hodgkin Lymphona, """									55			76		0	0	0.014410	0	0
FANCB	2187	broad.mit.edu	37	X	14883218	14883218	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chrX:14883218C>A	uc004cwg.1	-	2	683	c.415G>T	c.(415-417)Ggc>Tgc	p.G139C	FANCB_uc004cwh.1_Missense_Mutation_p.G139C	NM_001018113	NP_689846	Q8NB91	FANCB_HUMAN	Homo sapiens Fanconi anemia, complementation group B (FANCB), transcript variant 1, mRNA.	139					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					ATTAAAGGGCCATTAAGGACC	0.353000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					4			35		7.11191e-15	1.21495e-14	0.013726	1	0
NLRP11	204801	broad.mit.edu	37	19	56313004	56313004	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr19:56313004G>A	uc010ygf.2	-	6	2816	c.2105C>T	c.(2104-2106)tCc>tTc	p.S702F	NLRP11_uc002qlz.3_Missense_Mutation_p.S549F|NLRP11_uc002qmb.3_Missense_Mutation_p.S603F|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	702							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CATATTTAGGGAAATGGACGT	0.463000														69			44		0	0	0.010771	0	0
SSX9	280660	broad.mit.edu	37	X	48159108	48159108	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chrX:48159108G>T	uc022bvu.1	-	4	427	c.425C>A	c.(424-426)cCg>cAg	p.P142Q						RecName: Full=Protein SSX9;											breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						TGGTTTTCCCGGGGGGCACAG	0.488000														6			130		1.28113e-61	2.25919e-61	0.014410	1	0
DSC1	1823	broad.mit.edu	37	18	28714632	28714632	+	Silent	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr18:28714632C>T	uc002kwn.3	-	11	2041	c.1779G>A	c.(1777-1779)ctG>ctA	p.L593L	DSC1_uc002kwm.3_Silent_p.L593L	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	593	Cadherin 5.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CTACAGGTTTCAGAACAGCAA	0.378000														20			14		0	0	0.003163	0	0
FLRT2	23768	broad.mit.edu	37	14	86089781	86089781	+	Silent	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr14:86089781C>T	uc021rxf.1	+	0	1923	c.1923C>T	c.(1921-1923)atC>atT	p.I641I	FLRT2_uc001xvr.3_Silent_p.I641I|FLRT2_uc010atd.3_Silent_p.I641I	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	641					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		ACTGCCATATCCCCAACAACA	0.493000														191			140		0	0	0.014410	0	0
EPHB3	2049	broad.mit.edu	37	3	184293659	184293659	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr3:184293659C>T	uc003foz.3	+	3	1335	c.898C>T	c.(898-900)Ccc>Tcc	p.P300S		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	300	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GGGAGAGGGGCCCTGCCTCCC	0.632000														36			40		0	0	0.021022	0	0
SLC5A6	8884	broad.mit.edu	37	2	27427751	27427751	+	Silent	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr2:27427751G>A	uc010eyv.1	-	8	1105	c.783C>T	c.(781-783)ttC>ttT	p.F261F	SLC5A6_uc002rjd.3_Silent_p.F261F	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	Homo sapiens solute carrier family 5 (sodium-dependent vitamin transporter), member 6 (SLC5A6), transcript variant 1, mRNA.	261					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	AGACACCCCCGAAGGCCAAGG	0.582000														30			37		0	0	0.006999	0	0
SERPINA13	388007	broad.mit.edu	37	14	95111300	95111300	+	Silent	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr14:95111300C>T	uc001ydt.3	+	3	1120	c.1032C>T	c.(1030-1032)ctC>ctT	p.L344L						Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13 (pseudogene) (SERPINA13), non-coding RNA.											endometrium(1)|large_intestine(1)|lung(9)|skin(1)	12						GCAGAGAACTCGATTTCCACT	0.557000														4			13		0	0	0.003163	0	0
GBA3	57733	broad.mit.edu	37	4	22749054	22749054	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr4:22749054C>T	uc003gqp.4	+	2	513	c.422C>T	c.(421-423)tCc>tTc	p.S141F	GBA3_uc010iep.3_Intron|GBA3_uc011bxo.2_Missense_Mutation_p.S142F	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	Homo sapiens glucosidase, beta, acid 3 (cytosolic) (GBA3), transcript variant 1, mRNA.	141					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATCATTGAATCCTTTGACAAA	0.408000														64			51		0	0	0.014410	0	0
KIF13B	23303	broad.mit.edu	37	8	29033614	29033614	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr8:29033614G>A	uc003xhh.4	-	9	975	c.916C>T	c.(916-918)Cgt>Tgt	p.R306C	KIF13B_uc003xhj.2_Missense_Mutation_p.R203C|KIF13B_uc010lvf.1_Missense_Mutation_p.R242C	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	Homo sapiens kinesin family member 13B (KIF13B), mRNA.	306					T cell activation|microtubule-based movement|protein targeting|signal transduction	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		ACTGAGTCACGATATGGAACA	0.433000														2			12		0	0	0.010729	0	0
TMEM176B	28959	broad.mit.edu	37	7	150490296	150490296	+	Silent	SNP	G	A	A	rs148000953		TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr7:150490296G>A	uc022apx.1	-	3	606	c.480C>T	c.(478-480)atC>atT	p.I160I	TMEM176B_uc003whu.4_Silent_p.I160I|TMEM176B_uc003whv.4_Silent_p.I123I|TMEM176B_uc003whw.4_Silent_p.I160I	NM_014020	NP_054739	Q3YBM2	T176B_HUMAN	Homo sapiens transmembrane protein 176B (TMEM176B), transcript variant 1, mRNA.	160					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACACAGTGTCGATGTATAAAA	0.517000														50			35		0	0	0.017118	0	0
PTEN	5728	broad.mit.edu	37	10	89711916	89711916	+	Nonsense_Mutation	SNP	T	A	A	rs104894184		TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr10:89711916T>A	uc001kfb.3	+	5	1566	c.534T>A	c.(532-534)taT>taA	p.Y178*	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	178	Phosphatase tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.Y177C(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y178*(2)|p.Y177fs*1(2)|p.Y27fs*1(2)|p.Y177*(2)|p.Y27_N212>Y(2)|p.Y178del(1)|p.G165_K342del(1)|p.G165_*404del(1)|p.V175fs*3(1)|p.Y177fs*2(1)|p.Y178fs*5(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGTATTATTATAGCTACCTGT	0.368000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				57			6		0	0	0.001168	0	0
AKAP6	9472	broad.mit.edu	37	14	33015958	33015958	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr14:33015958C>T	uc001wrq.3	+	3	2269	c.2099C>T	c.(2098-2100)tCa>tTa	p.S700L	AKAP6_uc010aml.3_Missense_Mutation_p.S697L	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	700					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TCTCCAAGCTCATCTAGTGAC	0.468000														34			28		0	0	0.006320	0	0
CCDC144A	9720	broad.mit.edu	37	17	16665012	16665012	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr17:16665012G>A	uc002gqk.1	+	12	3722	c.3646G>A	c.(3646-3648)Gaa>Aaa	p.E1216K	CCDC144A_uc002gql.1_Missense_Mutation_p.E732K|CCDC144A_uc010cpj.1_Non-coding_Transcript	NM_014695	NP_055510	A2RUR9	C144A_HUMAN	Homo sapiens coiled-coil domain containing 144A (CCDC144A), mRNA.	1216																	AAAATTAAACGAAGCCATTCT	0.323000														3			17		0	0	0.005443	0	0
C1orf61	10485	broad.mit.edu	37	1	156386582	156386582	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr1:156386582A>T	uc001fou.1	-	2	323	c.50T>A	c.(49-51)cTt>cAt	p.L17H	C1orf61_uc001fov.1_Intron|C1orf61_uc001fow.1_Intron|C1orf61_uc001fox.1_Intron|C1orf61_uc001foy.1_Intron	NM_006365	NP_006356	Q13536	CROC4_HUMAN	Homo sapiens chromosome 1 open reading frame 61 (C1orf61), mRNA.	17						nucleus				large_intestine(2)|lung(2)|skin(1)	5	Hepatocellular(266;0.158)					AAGCTGGAAAAGGAGGAAGTT	0.463000														82			61		0	0	0.014410	0	0
NOBOX	135935	broad.mit.edu	37	7	144097383	144097383	+	Silent	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr7:144097383C>T	uc022aoj.1	-	4	867	c.867G>A	c.(865-867)aaG>aaA	p.K289K		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	289					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CTTGGAATATCTTCTCTAGCT	0.522000														47			31		0	0	0.012213	0	0
RHOV	171177	broad.mit.edu	37	15	41165519	41165519	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr15:41165519C>T	uc001znd.3	-	2	598	c.448G>A	c.(448-450)Gat>Aat	p.D150N		NM_133639	NP_598378	Q96L33	RHOV_HUMAN	Homo sapiens ras homolog gene family, member V (RHOV), mRNA.	150					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome membrane|plasma membrane	GTP binding|metal ion binding			central_nervous_system(1)|large_intestine(1)	2		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		ACGTTGACATCGTCCCTCAGG	0.642000														47			60		0	0	0.014410	0	0
SNTB2	6645	broad.mit.edu	37	16	69294068	69294068	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr16:69294068C>T	uc002ewu.3	+	2	930	c.910C>T	c.(910-912)Cca>Tca	p.P304S	SNTB2_uc021tkg.1_Intron	NM_006750	NP_006741	Q13425	SNTB2_HUMAN	Homo sapiens syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2) (SNTB2), mRNA.	304						cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane	actin binding|calmodulin binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		GGCTCTCCTCCCACAGGTGTT	0.527000														56			40		0	0	0.006230	0	0
ROR2	4920	broad.mit.edu	37	9	94493274	94493274	+	Silent	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr9:94493274G>A	uc004arj.2	-	6	1300	c.1101C>T	c.(1099-1101)aaC>aaT	p.N367N	ROR2_uc004ari.1_Silent_p.N227N|ROR2_uc004ark.3_Silent_p.N367N	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	367	Kringle.				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						GGCCTCCGGGGTTCCGGCAGT	0.612000														27			18		0	0	0.007413	0	0
ASTN1	460	broad.mit.edu	37	1	176915229	176915229	+	Silent	SNP	C	T	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr1:176915229C>T	uc001glc.3	-	12	2294	c.2082G>A	c.(2080-2082)gtG>gtA	p.V694V	ASTN1_uc001glb.1_Silent_p.V694V|ASTN1_uc001gld.1_Silent_p.V694V|ASTN1_uc009wwx.1_Silent_p.V694V	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	702	EGF-like 3.				cell migration|neuron cell-cell adhesion	integral to membrane				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						AGCGTCCATCCACACCAAGCT	0.517000														10			38		0	0	0.008740	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	107039	107039	+	RNA	SNP	G	A	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chrGL000211.1:107039G>A	uc003boa.3	+	3		c.738G>A								Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		CTGTGACAAAGAAAATAGAAC	0.373000														224			32		0	0	0.021022	0	0
ZNF714	148206	broad.mit.edu	37	19	21300715	21300715	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr19:21300715G>C	uc002npo.4	+	4	1623	c.1245G>C	c.(1243-1245)aaG>aaC	p.K415N	ZNF714_uc002npl.3_Missense_Mutation_p.K261N|ZNF714_uc002npn.3_Non-coding_Transcript|ZNF714_uc010ecp.2_Non-coding_Transcript|ZNF714_uc021urp.1_5'Flank	NM_182515	NP_872321	Q96N38	ZN714_HUMAN	Homo sapiens zinc finger protein 714 (ZNF714), mRNA.	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						CCAAACATAAGATAATTCATA	0.348000														13			22		0	0	0.012319	0	0
ALPK2	115701	broad.mit.edu	37	18	56204943	56204943	+	Missense_Mutation	SNP	G	A	A	rs139158112	byFrequency	TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr18:56204943G>A	uc002lhj.4	-	4	2690	c.2476C>T	c.(2476-2478)Cca>Tca	p.P826S	ALPK2_uc002lhk.1_Missense_Mutation_p.P157S	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	826							ATP binding|protein serine/threonine kinase activity	p.P192T(1)|p.P826T(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTATCAACTGGTCTCCCAACA	0.418000														24			8		0	0	0.006122	0	0
ANAPC4	29945	broad.mit.edu	37	4	25379058	25379058	+	Frame_Shift_Del	DEL	T	-	-			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr4:25379058delT	uc003gro.3	+	1	138	c.9delT	c.(7-9)cgtfs	p.R3fs		NM_013367	NP_037499	Q9UJX5	APC4_HUMAN	Homo sapiens anaphase promoting complex subunit 4 (ANAPC4), mRNA.	3					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)				CCATGTTGCGTTTTCCGACCT	0.632													---	36	---	---	16	---					
SF1	7536	broad.mit.edu	37	11	64533440	64533448	+	In_Frame_Del	DEL	AGGCGGTGG	-	-			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr11:64533440_64533448delAGGCGGTGG	uc001obb.2	-	12	2214_2222	c.1762_1770delCCACCGCCT	c.(1762-1770)ccaccgcctdel	p.PPP588del	SF1_uc010rnm.2_Intron|SF1_uc010rnn.2_In_Frame_Del_p.PPP562del|SF1_uc001oaz.2_Intron|SF1_uc001oba.2_In_Frame_Del_p.PPP588del|SF1_uc001obd.2_Intron|SF1_uc001obc.2_Intron|SF1_uc001obe.2_Intron|SF1_uc010rno.2_Intron|SF1_uc021qky.1_5'Flank	NM_004630	NP_001171502	Q15637	SF01_HUMAN	Homo sapiens splicing factor 1 (SF1), transcript variant 1, mRNA.	588	Pro-rich.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	RNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						CGGCGGAACCAGGCGGTGGAGGCGGCGGA	0.703													---	0	---	---	7	---					
MYO1A	4640	broad.mit.edu	37	12	57422573	57422573	+	Frame_Shift_Del	DEL	T	-	-			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr12:57422573delT	uc001smw.4	-	27	3338	c.3098delA	c.(3097-3099)aagfs	p.K1033fs	MYO1A_uc010sqz.2_Frame_Shift_Del_p.K871fs|MYO1A_uc009zpd.3_Frame_Shift_Del_p.K1033fs	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	1033					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.?(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						ATGACTCCCCTTTTTTTTGTA	0.557													---	363	---	---	8	---					
GABRB3	2562	broad.mit.edu	37	15	26866484	26866485	+	Frame_Shift_Ins	INS	-	TC	TC			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr15:26866484_26866485insTC	uc001zbb.3	-	4	708_709	c.605_606insGA	c.(604-606)gatfs	p.D202fs	GABRB3_uc021sgg.1_Frame_Shift_Ins_p.D75fs|GABRB3_uc021sgh.1_Frame_Shift_Ins_p.D61fs|GABRB3_uc001zaz.3_Frame_Shift_Ins_p.D146fs|GABRB3_uc001zba.3_Frame_Shift_Ins_p.D146fs|GABRB3_uc001zbc.3_Non-coding_Transcript	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	146					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GCACTGTCCCATCAGGGTGAAG	0.460													---	91	---	---	46	---					
DIS3L	115752	broad.mit.edu	37	15	66610870	66610870	+	Frame_Shift_Del	DEL	A	-	-			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr15:66610870delA	uc010ujm.2	+	7	1093	c.1078delA	c.(1078-1080)aaafs	p.K360fs	DIS3L_uc010ujl.1_Intron|DIS3L_uc002app.3_Frame_Shift_Del_p.K277fs|DIS3L_uc002apq.2_Frame_Shift_Del_p.K360fs|DIS3L_uc010bho.3_Frame_Shift_Del_p.K226fs	NM_001143688	NP_588616	Q8TF46	DI3L1_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae)-like (DIS3L), transcript variant 1, mRNA.	360					rRNA catabolic process	cytoplasm|exosome (RNase complex)	RNA binding|exonuclease activity|protein binding|ribonuclease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATCTCAGGGCAAAAATGCTCA	0.453													---	72	---	---	60	---					
PRR12	57479	broad.mit.edu	37	19	50099739	50099739	+	Frame_Shift_Del	DEL	C	-	-			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr19:50099739delC	uc002poo.4	+	3	2147	c.2147delC	c.(2146-2148)gcgfs	p.A716fs		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	439	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GGTGCCACTGCGGCACTGGAG	0.652													---	8	---	---	11	---					
