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
SLC4A2	6522	broad.mit.edu	37	7	150769149	150769149	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr7:150769149C>T	uc022apz.1	+	15	3501	c.2461C>T	c.(2461-2463)Cgc>Tgc	p.R821C	SLC4A2_uc003wit.4_Missense_Mutation_p.R821C|SLC4A2_uc011kve.2_Missense_Mutation_p.R812C|SLC4A2_uc003wiu.4_Missense_Mutation_p.R807C	NM_001199692	NP_001186621	P04920	B3A2_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) (SLC4A2), transcript variant 2, mRNA.	821	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	p.S820F(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTTCGTCTCCCGCTTCACCCA	0.607000														121			46		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48319406	48319406	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr7:48319406A>C	uc003toq.2	+	17	8639	c.8615A>C	c.(8614-8616)gAg>gCg	p.E2872A	ABCA13_uc010kys.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	2872					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						ACCAAGAAAGAGATGATTGAC	0.353000														60			33		0	0	1	0	0
KYNU	8942	broad.mit.edu	37	2	143742727	143742727	+	Silent	SNP	T	C	C			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr2:143742727T>C	uc010fnm.3	+	9	1020	c.804T>C	c.(802-804)gaT>gaC	p.D268D	KYNU_uc002tvk.3_Silent_p.D268D|KYNU_uc002tvl.3_Silent_p.D268D	NM_001199241	NP_001186170	Q16719	KYNU_HUMAN	Homo sapiens kynureninase (KYNU), transcript variant 3, mRNA.	268					NAD biosynthetic process|anthranilate metabolic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	GGGGAGTTGATTTTGCCTGCT	0.398000														47			23		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38932037	38932037	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr5:38932037C>G	uc003jln.2	+	15	2667	c.2265C>G	c.(2263-2265)atC>atG	p.I755M	OSMR_uc011cpj.2_Intron	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	755					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TCTTGCTCATCATGGTCATGT	0.393000														163			41		0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145293490	145293490	+	Missense_Mutation	SNP	G	C	C	rs6671335	by1000genomes	TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr1:145293490G>C	uc021oul.1	+	0	120	c.85G>C	c.(85-87)Gca>Cca	p.A29P	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc010oyh.1_Non-coding_Transcript|NBPF10_uc021ouk.1_Missense_Mutation_p.A29P|NBPF10_uc001emq.1_Missense_Mutation_p.A29P	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	29										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CCCCCAGCTGGCAGAGAAGAA	0.488000														346			107		0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20296101	20296101	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr14:20296101G>C	uc010tkv.2	+	0	494	c.494G>C	c.(493-495)cGc>cCc	p.R165P		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	165					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)		CTCATCCTCCGCTTGCCTTTT	0.517000														112			25		0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37179530	37179530	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr5:37179530G>T	uc011cpa.1	-	28	5984	c.5753C>A	c.(5752-5754)tCt>tAt	p.S1918Y	C5orf42_uc011coy.1_Missense_Mutation_p.S418Y|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.S993Y	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	1918										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ACCTCCAACAGATTCTTCAAT	0.353000														268			84		2.48225e-49	2.66612e-49	1	1	0
SLC6A18	348932	broad.mit.edu	37	5	1244416	1244416	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr5:1244416C>T	uc003jby.2	+	9	1547	c.1424C>T	c.(1423-1425)gCc>gTc	p.A475V		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	475					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GACAATTTTGCCGCTTCCCCG	0.582000														823			6		0	0	1	0	0
ADHFE1	137872	broad.mit.edu	37	8	67356885	67356885	+	Silent	SNP	C	G	G			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr8:67356885C>G	uc003xwb.4	+	4	289	c.255C>G	c.(253-255)tcC>tcG	p.S85S	ADHFE1_uc003xwd.4_Non-coding_Transcript|ADHFE1_uc003xwc.4_Silent_p.S37S|ADHFE1_uc003xwe.4_Non-coding_Transcript|ADHFE1_uc003xwf.4_Non-coding_Transcript|ADHFE1_uc011les.2_Silent_p.S15S|ADHFE1_uc011leq.1_Non-coding_Transcript|ADHFE1_uc011ler.1_Non-coding_Transcript	NM_144650	NP_653251	Q8IWW8	HOT_HUMAN	Homo sapiens alcohol dehydrogenase, iron containing, 1 (ADHFE1), nuclear gene encoding mitochondrial protein, mRNA.	85					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			AGAACCTCTCCAAGCTCCCTC	0.433000														127			54		0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138584292	138584292	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr6:138584292G>A	uc003qhu.3	+	11	1843	c.1672G>A	c.(1672-1674)Gac>Aac	p.D558N		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	558					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGAGGCGGTAGACCAGCCAGA	0.527000														31			13		0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37179517	37179517	+	Silent	SNP	G	A	A			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr5:37179517G>A	uc011cpa.1	-	28	5997	c.5766C>T	c.(5764-5766)ttC>ttT	p.F1922F	C5orf42_uc011coy.1_Silent_p.F422F|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Silent_p.F997F	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	1922										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TGGGACTTCTGAAACCTCCAA	0.343000														291			104		0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29118773	29118773	+	Silent	SNP	C	T	T			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr18:29118773C>T	uc002kwu.4	+	11	1899	c.1711C>T	c.(1711-1713)Ctg>Ttg	p.L571L		NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	571					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			AATTCAGTTCCTGATTTCAGA	0.463000														37			10		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38932986	38932986	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr5:38932986C>G	uc003jln.2	+	17	2782	c.2380C>G	c.(2380-2382)Cta>Gta	p.L794V	OSMR_uc011cpj.2_5'UTR	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	794					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GAACCCTCACCTAATAATAAT	0.368000														88			19		0	0	1	0	0
AP5Z1	9907	broad.mit.edu	37	7	4823016	4823016	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr7:4823016G>A	uc003sne.3	+	3	521	c.436G>A	c.(436-438)Gag>Aag	p.E146K	AP5Z1_uc010ksp.3_Non-coding_Transcript	NM_014855	NP_055670	O43299	K0415_HUMAN	Homo sapiens KIAA0415 (KIAA0415), mRNA.	146					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding										CCGGCAGCCTGAGGGACCCAG	0.667000														27			10		0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102071077	102071077	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr12:102071077G>A	uc001tii.3	+	25	3133	c.2993G>A	c.(2992-2994)gGg>gAg	p.G998E	MYBPC1_uc001tig.3_Missense_Mutation_p.G1005E|MYBPC1_uc010svr.2_Missense_Mutation_p.G980E|MYBPC1_uc010svs.2_Missense_Mutation_p.G998E|MYBPC1_uc001tij.3_Missense_Mutation_p.G980E|MYBPC1_uc010svt.2_Missense_Mutation_p.G968E|MYBPC1_uc010svu.2_Missense_Mutation_p.G961E|MYBPC1_uc001tik.3_Missense_Mutation_p.G954E|MYBPC1_uc001tih.3_Missense_Mutation_p.G1005E|MYBPC1_uc010svq.2_Missense_Mutation_p.G967E|MYBPC1_uc001til.3_Missense_Mutation_p.G23E	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	998	Fibronectin type-III 3.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TTGGTCATAGGGAATGAATAT	0.413000														46			21		0	0	1	0	0
PCSK4	54760	broad.mit.edu	37	19	1482932	1482932	+	Silent	SNP	G	A	A			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr19:1482932G>A	uc002ltb.1	-	12	1721	c.1659C>T	c.(1657-1659)acC>acT	p.T553T	PCSK4_uc002lsz.2_Silent_p.T40T|PCSK4_uc002lta.2_Intron	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 4 (PCSK4), mRNA.	553					proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTAGGCCCAGGGTCCACACGC	0.622000														23			20		0	0	1	0	0
ZNF304	57343	broad.mit.edu	37	19	57869174	57869174	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr19:57869174A>G	uc010etw.3	+	3	2466	c.2078A>G	c.(2077-2079)aAc>aGc	p.N693S	ZNF304_uc010ygw.2_Missense_Mutation_p.N646S|ZNF304_uc010etx.3_Missense_Mutation_p.N604S	NM_020657	NP_065708	Q9HCX3	ZN304_HUMAN	Homo sapiens zinc finger protein 304 (ZNF304), mRNA.	646					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		CACGAGTGCAACAGTTTTGGT	0.438000														56			34		0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	144621649	144621649	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr1:144621649C>G	uc009wig.1	+	7	1169	c.975C>G	c.(973-975)aaC>aaG	p.N325K	NBPF10_uc010oxo.1_Missense_Mutation_p.N327K|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Missense_Mutation_p.N258K|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_Missense_Mutation_p.N56K	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	327										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ACCAGCAGAACAAATACAGTA	0.428000														675			8		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38933362	38933362	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr5:38933362C>T	uc003jln.2	+	17	3158	c.2756C>T	c.(2755-2757)tCc>tTc	p.S919F	OSMR_uc011cpj.2_Missense_Mutation_p.S123F	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	919					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					AATTATGTGTCCCAGTTGGCT	0.443000														157			36		0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120462957	120462957	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr1:120462957G>A	uc001eik.3	-	29	5671	c.5374C>T	c.(5374-5376)Cag>Tag	p.Q1792*		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	1792					Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCAAGGTGCTGCTGTGTCCAT	0.537000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					248			31		0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718512	142718512	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chrX:142718512G>A	uc022cfm.1	-	0	413	c.413C>T	c.(412-414)gCt>gTt	p.A138V	SLITRK4_uc022cfl.1_Missense_Mutation_p.A138V|SLITRK4_uc004fbx.3_Missense_Mutation_p.A138V|SLITRK4_uc004fby.3_Missense_Mutation_p.A138V	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	138						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					ATTGTAGTCAGCCTGGAGATA	0.393000														48			32		0	0	1	0	0
FPGS	2356	broad.mit.edu	37	9	130566807	130566807	+	Silent	SNP	C	T	T			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr9:130566807C>T	uc004bsg.1	+	2	347	c.297C>T	c.(295-297)atC>atT	p.I99I	FPGS_uc004bsh.1_5'UTR|FPGS_uc011mal.1_Silent_p.I99I|FPGS_uc004bsi.1_Silent_p.I49I	NM_004957	NP_004948	Q05932	FOLC_HUMAN	Homo sapiens folylpolyglutamate synthase (FPGS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	99					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					L-Glutamic Acid(DB00142)	TGAACATCATCCACGTCACTG	0.597000														30			18		0	0	1	0	0
ZNF397	84307	broad.mit.edu	37	18	32823176	32823176	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr18:32823176T>A	uc010dmp.3	+	2	635	c.475T>A	c.(475-477)Tcc>Acc	p.S159T	ZNF397_uc002kyi.3_Missense_Mutation_p.S159T|ZNF397_uc002kyj.3_Missense_Mutation_p.S159T|ZNF397_uc010dmq.3_Missense_Mutation_p.S159T|ZNF397_uc010dmr.3_Non-coding_Transcript	NM_001135178	NP_001128650	Q8NF99	ZN397_HUMAN	Homo sapiens zinc finger protein 397 (ZNF397), transcript variant 1, mRNA.	159					viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	12						TCTCAGAGCATCCCAAGAGTC	0.463000														56			18		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38933286	38933286	+	Silent	SNP	C	T	T			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr5:38933286C>T	uc003jln.2	+	17	3082	c.2680C>T	c.(2680-2682)Cta>Tta	p.L894L	OSMR_uc011cpj.2_Silent_p.L98L	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	894					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TGAAAATGTACTAAAGGCACT	0.463000														224			58		0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19721457	19721457	+	Splice_Site	SNP	T	G	G			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr5:19721457T>G	uc003jgd.3	-	5	1177	c.643_splice	c.e5+1	p.G215_splice	CDH18_uc011cnm.2_Splice_Site_p.G215_splice|CDH18_uc003jgc.3_Splice_Site_p.G215_splice|CDH18_uc021xwu.1_Splice_Site_p.G215_splice	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	215	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGCACTAACCTGTTTTAGGGT	0.438000														493			44		0	0	1	0	0
DMRTC2	63946	broad.mit.edu	37	19	42354740	42354740	+	Silent	SNP	C	T	T			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr19:42354740C>T	uc010xwe.2	+	6	1199	c.1116C>T	c.(1114-1116)atC>atT	p.I372I	DMRTC2_uc002orr.1_Silent_p.I249I|DMRTC2_uc002ors.3_Silent_p.I321I	NM_001040283	NP_001035373	Q8IXT2	DMRTD_HUMAN	Homo sapiens DMRT-like family C2 (DMRTC2), mRNA.	321					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						CTGCCTGGATCTCCCTGCTTC	0.597000														24			13		0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31901989	31901989	+	Silent	SNP	C	T	T			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr6:31901989C>T	uc003nyf.3	+	5	1026	c.762C>T	c.(760-762)aaC>aaT	p.N254N	CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|CFB_uc011dop.2_Intron|CFB_uc003nye.4_Silent_p.N254N|CFB_uc010jtk.3_Silent_p.N122N|CFB_uc011doq.2_Silent_p.N225N|CFB_uc011dor.2_Intron|CFB_uc003nyh.2_5'Flank	NM_000063	NP_000054	P00751	CFAB_HUMAN	Homo sapiens complement component 2 (C2), transcript variant 1, mRNA.	270					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GTCATCTGAACCTCTACCTGC	0.542000														124			45		0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	73102473	73102473	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr6:73102473C>A	uc003pga.3	+	30	4656	c.4579C>A	c.(4579-4581)Cag>Aag	p.Q1527K	RIMS1_uc011dyb.2_Missense_Mutation_p.Q924K|RIMS1_uc003pgc.3_Missense_Mutation_p.Q976K|RIMS1_uc010kaq.3_Missense_Mutation_p.Q847K|RIMS1_uc011dyc.2_Missense_Mutation_p.Q652K|RIMS1_uc010kar.3_Missense_Mutation_p.Q595K|RIMS1_uc011dyd.2_Missense_Mutation_p.Q661K|RIMS1_uc003pge.3_Missense_Mutation_p.Q567K|RIMS1_uc003pgf.3_Missense_Mutation_p.Q527K|RIMS1_uc003pgi.3_Missense_Mutation_p.Q343K|RIMS1_uc003pgg.3_Missense_Mutation_p.Q423K|RIMS1_uc003pgh.3_Missense_Mutation_p.Q394K|RIMS1_uc003pgd.3_Missense_Mutation_p.Q593K|RIMS1_uc011dye.2_Missense_Mutation_p.Q333K|RIMS1_uc011dyf.2_Missense_Mutation_p.Q151K|RIMS1_uc011dyg.2_Missense_Mutation_p.Q54K	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	1527					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GGGACCAGCCCAGCTTGTTGG	0.403000														56			17		7.87624e-14	8.30586e-14	1	1	0
TTN	7273	broad.mit.edu	37	2	179396850	179396850	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr2:179396850G>A	uc021vsy.1	-	306	97013	c.96788C>T	c.(96787-96789)tCa>tTa	p.S32263L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S25958L|TTN_uc021vta.1_Missense_Mutation_p.S25891L|TTN_uc021vtb.1_Missense_Mutation_p.S25766L|TTN_uc002umq.3_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	33190	Protein kinase.						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)			AGACGCAGATGAGGATGATTC	0.443000														28			17		0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	C	C	rs142470496	byFrequency	TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr22:29091840T>C	uc003adu.1	-	10	1189	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Missense_Mutation_p.K152E|CHEK2_uc010gvh.1_Missense_Mutation_p.K282E|CHEK2_uc010gvi.1_Intron|CHEK2_uc003adt.1_Missense_Mutation_p.K416E|CHEK2_uc003adv.1_Missense_Mutation_p.K344E|CHEK2_uc003adx.1_Missense_Mutation_p.K152E	NM_007194	NP_009125	O96017	CHK2_HUMAN	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA.	373	Protein kinase.				DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(18)|p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes						62			7		0	0	1	0	0
WDR93	56964	broad.mit.edu	37	15	90272323	90272323	+	Splice_Site	SNP	A	G	G			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr15:90272323A>G	uc002boj.3	+	10	1224	c.1123_splice	c.e10+1	p.G375_splice	WDR93_uc010bnr.3_Splice_Site_p.G375_splice|WDR93_uc010upz.2_Splice_Site_p.G92_splice	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	Homo sapiens WD repeat domain 93 (WDR93), mRNA.	375					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			AGGGCCCCTCAGGTAAATGAA	0.527000														101			4		0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	144816651	144816651	+	Missense_Mutation	SNP	C	T	T	rs589059		TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr1:144816651C>T	uc009wig.1	+	11	1746	c.1552C>T	c.(1552-1554)Cgg>Tgg	p.R518W	NBPF10_uc010oxo.1_Missense_Mutation_p.R520W|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_Missense_Mutation_p.R249W|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|NBPF10_uc021ouf.1_Missense_Mutation_p.R180W	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	520								p.H517Y(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TCATGTTGAACGGGAAGATGC	0.448000														267			5		0	0	1	0	0
CBLC	23624	broad.mit.edu	37	19	45285749	45285749	+	Splice_Site	SNP	G	C	C			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr19:45285749G>C	uc002ozs.3	+	4	842	c.779_splice	c.e4+1	p.S260_splice	CBLC_uc010ejt.3_Splice_Site_p.S260_splice	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence c (CBLC), transcript variant 1, mRNA.	260	Cbl-PTB.|SH2-like.				cell surface receptor linked signaling pathway|negative regulation of MAP kinase activity|negative regulation of epidermal growth factor receptor activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	SH3 domain binding|calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				AGCCAGGCAGGTAAAGGGTCC	0.612000			M		AML									19			20		0	0	1	0	0
SH3TC2	79628	broad.mit.edu	37	5	148407327	148407327	+	Silent	SNP	G	A	A	rs114797709	by1000genomes	TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr5:148407327G>A	uc003lpu.3	-	10	2120	c.1968C>T	c.(1966-1968)gcC>gcT	p.A656A	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc010jgw.3_Silent_p.A300A|SH3TC2_uc003lps.3_Non-coding_Transcript|SH3TC2_uc003lpt.3_Silent_p.A203A|SH3TC2_uc010jgx.3_Silent_p.A649A|SH3TC2_uc003lpv.1_Silent_p.A203A|SH3TC2_uc011dbz.1_Silent_p.A541A	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA.	656							binding	p.F655S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGCGCTCGGCAAAGGGCA	0.607000														32			4		0	0	1	0	0
PRDM7	11105	broad.mit.edu	37	16	90126823	90126823	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr16:90126823T>G	uc010cje.3	-	8	1179	c.1159A>C	c.(1159-1161)Atg>Ctg	p.M387L	PRDM7_uc002fqo.3_Intron|PRDM7_uc010cjf.3_Intron|PRDM7_uc010cjg.1_Missense_Mutation_p.M181L	NM_001098173	NP_001091643	Q9NQW5	PRDM7_HUMAN	Homo sapiens PR domain containing 7 (PRDM7), transcript variant 1, mRNA.	387						chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCATCCCCATACCAGACCAG	0.522000														74			3		0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	144621642	144621642	+	Missense_Mutation	SNP	A	G	G	rs11485968		TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr1:144621642A>G	uc009wig.1	+	7	1162	c.968A>G	c.(967-969)cAg>cGg	p.Q323R	NBPF10_uc010oxo.1_Missense_Mutation_p.Q325R|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Missense_Mutation_p.Q256R|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_Missense_Mutation_p.Q54R	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	325										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CTGGCCAACCAGCAGAACAAA	0.433000														728			9		0	0	1	0	0
TERT	7015	broad.mit.edu	37	5	1280341	1280341	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr5:1280341C>T	uc003jcb.1	-	3	1940	c.1882G>A	c.(1882-1884)Gac>Aac	p.D628N	TERT_uc003jbz.1_5'UTR|TERT_uc003jcc.1_Missense_Mutation_p.D628N|TERT_uc003jca.1_Missense_Mutation_p.D628N|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron|TERT_uc021xwc.1_Missense_Mutation_p.D80N	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	628	Reverse transcriptase.				DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGCAGCCCGTCAGGCTTGGGG	0.597000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis					198			57		0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5154030	5154030	+	Silent	SNP	C	T	T			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr12:5154030C>T	uc001qni.3	+	0	946	c.717C>T	c.(715-717)atC>atT	p.I239I		NM_002234	NP_002225	P22460	KCNA5_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA.	239						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.I239I(2)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						TGTGGCTTATCTTCGAGTATC	0.602000														81			38		0	0	1	0	0
TERT	7015	broad.mit.edu	37	5	1278834	1278834	+	Silent	SNP	C	T	T			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr5:1278834C>T	uc003jcb.1	-	5	2266	c.2208G>A	c.(2206-2208)caG>caA	p.Q736Q	TERT_uc003jbz.1_5'UTR|TERT_uc003jcc.1_Silent_p.Q736Q|TERT_uc003jca.1_Silent_p.Q724Q|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron|TERT_uc021xwc.1_Silent_p.Q188Q	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	736	Reverse transcriptase.				DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			AGTACGTGTTCTGGGGTTTGA	0.612000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis					546			176		0	0	1	0	0
BASP1	10409	broad.mit.edu	37	5	17275436	17275436	+	Silent	SNP	G	A	A			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr5:17275436G>A	uc003jfx.3	+	1	290	c.111G>A	c.(109-111)ccG>ccA	p.P37P	BASP1_uc021xws.1_Silent_p.P37P	NM_006317	NP_006308	P80723	BASP1_HUMAN	Homo sapiens brain abundant, membrane attached signal protein 1 (BASP1), mRNA.	37					glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding			endometrium(1)|lung(8)	9						AGGGGACCCCGAAGGAGAGTG	0.647000														38			5		0	0	1	0	0
ANAPC2	29882	broad.mit.edu	37	9	140082963	140082963	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr9:140082963C>A	uc004clr.1	-	0	95	c.22G>T	c.(22-24)Gcg>Tcg	p.A8S	ANAPC2_uc004clq.1_5'Flank|ANAPC2_uc011mer.1_Missense_Mutation_p.A8S|SSNA1_uc004cls.2_5'Flank	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	Homo sapiens anaphase promoting complex subunit 2 (ANAPC2), mRNA.	8					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		TCCCCCTCCGCCACCACAACT	0.716000														13			10		2.80697e-09	2.90722e-09	1	1	0
OR2H1	26716	broad.mit.edu	37	6	29430168	29430168	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr6:29430168C>T	uc003nmi.3	+	2	1065	c.622C>T	c.(622-624)Cct>Tct	p.P208S	OR2H1_uc003nmj.1_Missense_Mutation_p.P208S|OR2H1_uc010jri.2_Missense_Mutation_p.P130S|OR2H1_uc021ytr.1_Missense_Mutation_p.P208S	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA.	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						CGTGGTTGTGCCTCTCAGCCT	0.522000														142			4		0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123313098	123313098	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr9:123313098T>C	uc004bkf.3	-	3	459	c.278A>G	c.(277-279)cAt>cGt	p.H93R	CDK5RAP2_uc004bkg.3_Missense_Mutation_p.H93R|CDK5RAP2_uc011lxw.2_5'UTR|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_5'UTR|CDK5RAP2_uc011lya.2_5'UTR|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.H93R	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	93					G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						AGTGGGGCCATGAAATTCCTG	0.368000														72			27		0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	144816656	144816656	+	Silent	SNP	A	G	G	rs9424752		TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr1:144816656A>G	uc009wig.1	+	11	1751	c.1557A>G	c.(1555-1557)gaA>gaG	p.E519E	NBPF10_uc010oxo.1_Silent_p.E521E|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_Silent_p.E250E|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|NBPF10_uc021ouf.1_Silent_p.E181E	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	521										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TTGAACGGGAAGATGCTGTAC	0.433000														253			6		0	0	1	0	0
NBEAP1	606	broad.mit.edu	37	15	20874927	20874927	+	Missense_Mutation	SNP	T	A	A	rs62000629	by1000genomes	TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr15:20874927T>A	uc010tze.1	-	2	418	c.211A>T	c.(211-213)Att>Ttt	p.I71F	NBEAP1_uc010tzd.2_Non-coding_Transcript					Homo sapiens neurobeachin pseudogene 1 (NBEAP1), non-coding RNA.																		GCAGTTCCAATAAATTCAGCA	0.313000														44			8		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38932592	38932592	+	Silent	SNP	C	T	T			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr5:38932592C>T	uc003jln.2	+	16	2724	c.2322C>T	c.(2320-2322)atC>atT	p.I774I	OSMR_uc011cpj.2_5'UTR	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	774					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					ATCCTGACATCCCTGACCCTT	0.393000														80			23		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38933185	38933185	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr5:38933185C>G	uc003jln.2	+	17	2981	c.2579C>G	c.(2578-2580)aCc>aGc	p.T860S	OSMR_uc011cpj.2_Missense_Mutation_p.T64S	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	860					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GAGAACTTGACCTATAACCAG	0.478000														283			69		0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7174404	7174404	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr12:7174404C>T	uc001qsj.3	+	11	1768	c.1049C>T	c.(1048-1050)tCc>tTc	p.S350F	C1S_uc001qsk.3_Missense_Mutation_p.S350F|C1S_uc001qsl.3_Missense_Mutation_p.S350F|C1S_uc009zfr.3_Missense_Mutation_p.S183F|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	350	Sushi 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TGGAGTAATTCCAAACTGAAA	0.378000														40			11		0	0	1	0	0
CLPTM1	1209	broad.mit.edu	37	19	45480719	45480719	+	Splice_Site	SNP	T	C	C			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr19:45480719T>C	uc002pai.3	+	5	640	c.586_splice	c.e5+2	p.M196_splice	CLPTM1_uc010ejv.1_Splice_Site_p.M94_splice|CLPTM1_uc010xxf.2_Splice_Site_p.M94_splice|CLPTM1_uc010xxg.2_Splice_Site_p.M182_splice	NM_001294	NP_001285	O96005	CLPT1_HUMAN	Homo sapiens cleft lip and palate associated transmembrane protein 1 (CLPTM1), transcript variant 2, mRNA.	196					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		TGTCCCGGAGTAAGTCGCTCC	0.627000														42			25		0	0	1	0	0
ANO10	55129	broad.mit.edu	37	3	43647213	43647213	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr3:43647213delT	uc003cmv.3	-	1	303	c.132delA	c.(130-132)aaafs	p.K44fs	ANO10_uc011azs.2_Frame_Shift_Del_p.K44fs|ANO10_uc003cmw.3_Frame_Shift_Del_p.K44fs|ANO10_uc010hil.3_Frame_Shift_Del_p.K44fs|ANO10_uc011azt.2_Frame_Shift_Del_p.K44fs	NM_018075	NP_060545	Q9NW15	ANO10_HUMAN	Homo sapiens anoctamin 10 (ANO10), transcript variant 1, mRNA.	44					cell death	chloride channel complex	chloride channel activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						CACCTCCATCTTTTTTTTTAG	0.408													---	60	---	---	8	---					
HIST1H2AG	8969	broad.mit.edu	37	6	27101004	27101005	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr6:27101004_27101005insA	uc003niw.3	+	0	188_189	c.154_155insA	c.(154-156)ctgfs	p.L52fs	HIST1H2BJ_uc003niu.1_5'Flank|HIST1H2BJ_uc003niv.3_5'Flank	NM_021064	NP_066408	P0C0S8	H2A1_HUMAN	Homo sapiens histone cluster 1, H2ag (HIST1H2AG), mRNA.	52					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						GCCGGTGTATCTGGCAGCGGTG	0.673													---	38	---	---	21	---					
MUC6	4588	broad.mit.edu	37	11	1031058	1031059	+	Splice_Site	INS	-	G	G	rs140721287	by1000genomes	TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr11:1031058_1031059insG	uc001lsw.2	-	6	626	c.575_splice	c.e6-1	p.G192_splice		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	192	VWFD 1.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGAACTTGCCTGGGGTGCAGAA	0.703													---	7	---	---	4	---					
MESP2	145873	broad.mit.edu	37	15	90320121	90320144	+	In_Frame_Del	DEL	AGGGGCAGGGGCAAGGGCAGGGGC	-	-	rs56192595		TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	uc002bon.3	+	0	533_556	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	c.(532-558)gaggggcaggggcaagggcaggggcag>gag	p.GQGQGQGQ195del	MESP2_uc010uqa.2_Intron	NM_001039958	NP_001035047	Q0VG99	MESP2_HUMAN	Homo sapiens mesoderm posterior 2 homolog (mouse) (MESP2), mRNA.	195	13 X 2 AA tandem repeats of G-Q.				Notch signaling pathway	nucleus	DNA binding	p.Q198_G205delQGQGQGQG(2)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg	0.777													---	4	---	---	4	---					
PRKAR1A	5573	broad.mit.edu	37	17	66511682	66511683	+	Frame_Shift_Ins	INS	-	AT	AT			TCGA-EB-A5SF-01A-11D-A30X-08	TCGA-EB-A5SF-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b83edc28-0c08-432e-871f-2a4973332f72	408d6bbf-3301-416b-9499-ce6ef2c0c8ce	g.chr17:66511682_66511683insAT	uc002jhg.3	+	1	322_323	c.142_143insAT	c.(142-144)gcafs	p.A48fs	PRKAR1A_uc002jhh.3_Frame_Shift_Ins_p.A48fs|PRKAR1A_uc002jhi.3_Frame_Shift_Ins_p.A48fs|PRKAR1A_uc002jhj.3_Frame_Shift_Ins_p.A48fs|PRKAR1A_uc002jhk.3_5'UTR|PRKAR1A_uc002jhl.3_Frame_Shift_Ins_p.A48fs	NM_212471	NP_997637	P10644	KAP0_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1) (PRKAR1A), transcript variant 2, mRNA.	48	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					GAGACCCATGGCATTCCTCAGG	0.436			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of				---	16	---	---	11	---					
